Raras
Buscar doenças, sintomas, genes...
Complexo de extrofia da bexiga-epispádias
ORPHA:322CID-10 · Q64.1OMIM 258040DOENÇA RARA

Um conjunto de problemas de formação que afetam os órgãos genitais e urinários. Esses problemas variam em gravidade, indo desde a epispadia (E) e a extrofia vesical clássica (CEB) – que são as formas menos complexas – até a extrofia de cloaca (EC), que é a forma mais grave. Dependendo do quão grave é o caso, essas condições podem afetar o sistema urinário, os músculos e ossos, a pelve (região do quadril), o assoalho pélvico (músculos que sustentam os órgãos na parte de baixo da pelve), a parede abdominal (a "barriga"), os órgãos genitais e, em alguns casos, até a coluna e o ânus.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Um conjunto de problemas de formação que afetam os órgãos genitais e urinários. Esses problemas variam em gravidade, indo desde a epispadia (E) e a extrofia vesical clássica (CEB) – que são as formas menos complexas – até a extrofia de cloaca (EC), que é a forma mais grave. Dependendo do quão grave é o caso, essas condições podem afetar o sistema urinário, os músculos e ossos, a pelve (região do quadril), o assoalho pélvico (músculos que sustentam os órgãos na parte de baixo da pelve), a parede abdominal (a "barriga"), os órgãos genitais e, em alguns casos, até a coluna e o ânus.

Publicações científicas
428 artigos
Último publicado: 2026 Mar-Apr

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q64.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫘
Rins
16 sintomas
🫃
Digestivo
14 sintomas
🦴
Ossos e articulações
8 sintomas
😀
Face
3 sintomas
🧠
Neurológico
3 sintomas
❤️
Coração
1 sintomas

+ 40 sintomas em outras categorias

Características mais comuns

55%prev.
Defeito da parede abdominal
Frequente (79-30%)
55%prev.
Cistocele
Frequente (79-30%)
55%prev.
Epispadias
Frequente (79-30%)
55%prev.
Anormalidade da parede abdominal
Frequente (79-30%)
55%prev.
Extrofia da bexiga
Frequente (79-30%)
55%prev.
Refluxo vesicoureteral
Frequente (79-30%)
85sintomas
Frequente (6)
Ocasional (20)
Muito raro (14)
Sem dados (45)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 85 características clínicas mais associadas, ordenadas por frequência.

Defeito da parede abdominalAbdominal wall defect
Frequente (79-30%)55%
CistoceleCystocele
Frequente (79-30%)55%
Epispadias
Frequente (79-30%)55%
Anormalidade da parede abdominalAbnormality of the abdominal wall
Frequente (79-30%)55%
Extrofia da bexigaBladder exstrophy
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico428PubMed
Últimos 10 anos200publicações
Pico202429 papers
Linha do tempo
2026Hoje · 2026🧪 2012Primeiro ensaio clínico📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial.

ISL1Insulin gene enhancer protein ISL-1Candidate gene tested inAltamente restrito
FUNÇÃO

DNA-binding transcriptional activator. Recognizes and binds to the consensus octamer binding site 5'-ATAATTAA-3' in promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Cooperates with the transcription factor POU4F2 to achieve maximal levels of expression of RGC target genes and RGC fate specification in the developing retina. Involved in the specification of motor neurons in cooperation with LHX3 and LDB1 (

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (3)
Regulation of expression of SLITs and ROBOsCardiogenesisSynthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
EXPRESSÃO TECIDUAL(Tecido-específico)
Vagina
28.0 TPM
Próstata
20.8 TPM
Cervix Ectocervix
17.4 TPM
Estômago
10.1 TPM
Esôfago - Junção
4.3 TPM
OUTRAS DOENÇAS (1)
bladder exstrophy
HGNC:6132UniProt:P61371
TP63Tumor protein 63Candidate gene tested inAltamente restrito
FUNÇÃO

Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 activates RIPK4 transcription. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes. Involved in Notch signaling by probably inducing JAG1 and JAG

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (9)
TP53 Regulates Transcription of Genes Involved in Cytochrome C ReleaseRegulation of TP53 Activity through Association with Co-factorsActivation of PUMA and translocation to mitochondriaTP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertainTP53 Regulates Transcription of Death Receptors and Ligands
MECANISMO DE DOENÇA

Acro-dermato-ungual-lacrimal-tooth syndrome

A form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADULT syndrome involves ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia and loss of permanent teeth. ADULT syndrome differs significantly from EEC3 syndrome by the absence of facial clefting. Inheritance is autosomal dominant.

EXPRESSÃO TECIDUAL(Tecido-específico)
Skin Not Sun Exposed Suprapubic
138.8 TPM
Skin Sun Exposed Lower leg
115.7 TPM
Vagina
77.8 TPM
Esôfago - Mucosa
71.8 TPM
Próstata
17.5 TPM
OUTRAS DOENÇAS (15)
orofacial cleft 8limb-mammary syndromepremature ovarian failure 21ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
HGNC:15979UniProt:Q9H3D4

Variantes genéticas (ClinVar)

227 variantes patogênicas registradas no ClinVar.

🧬 ISL1: GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1 ()
🧬 ISL1: GRCh37/hg19 5q11.1-11.2(chr5:49430268-53182665)x1 ()
🧬 ISL1: GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 ()
🧬 ISL1: GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) ()
🧬 ISL1: GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 11 variantes classificadas pelo ClinVar.

2
9
Patogênica (18.2%)
VUS (81.8%)
VARIANTES MAIS SIGNIFICATIVAS
IGL: NM_080764.4(ZNF280B):c.937G>A (p.Val313Met) [Conflicting classifications of pathogenicity]
FANCE: NM_021922.3(FANCE):c.929C>A (p.Pro310Gln) [Conflicting classifications of pathogenicity]
WDR81: NM_001163809.2(WDR81):c.1772G>A (p.Arg591His) [Uncertain significance]
TMEM120B: NM_001080825.2(TMEM120B):c.605T>C (p.Val202Ala) [Uncertain significance]
TCP11L1: NM_018393.4(TCP11L1):c.391A>G (p.Ile131Val) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Complexo de extrofia da bexiga-epispádias

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

4 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
236 papers (10 anos)
#1

Pubic diastasis as a predictor of continence outcomes in the isolated male epispadias patient: An innovative prognostic factor.

Journal of pediatric urology2026 Feb 17

Isolated male epispadias (IME) presents as an abnormally displaced dorsal opening of the urethral meatus. It occurs in 1:120,000 live male births. Like all pathologies within the Bladder Exstrophy-Epispadias Complex (BEEC), this condition is associated with varying degrees of a widened pubic diastasis. This study sought to investigate the correlation between width of diastasis and continence outcomes. An IRB-approved, prospectively maintained, single-institutional BEEC database was utilized to identify male patients with isolated epispadias. Electronic medical records were reviewed for data pertaining to patient demographics, their original epispadias revision surgeries, and continence procedures and outcomes. Width of pubic diastasis was recorded through measurements obtained in radiographic imaging. Continence was described in terms of social continence or >3 h of daytime dry intervals between voids. These factors were assessed for their impact on continence outcomes. Of the 144 male epispadias cases reported in the database, 61 patients with complete data were identified. Of the 61 patients, 31 (51 %) achieved social continence while the remainder are incontinent. Mean width of pubic diastasis was relatively shorter in the continent group (2.00 cm, SD 1.18 cm vs 2.54 cm, SD 1.02 cm) when compared to the incontinent cohort (p = 0.0606). 15 of 31 continent patients did not require additional surgery to achieve continence while the remainder received 1-3 surgeries to achieve dryness. The 16 that required surgery had a significantly wider pubic diastasis (2.8 cm, SD 0.98 vs 1.17 cm, SD 0.69 cm) when compared to the nonsurgical group (p < 0.001). Of the 30 incontinent patients, 22 of them have not received additional continence surgery while 8 have had 1-2 surgeries. There was no significant difference (p = 0,0724) in diastasis width between those who received surgery and those who did not (2.54, SD 0.71 cm vs 2.54, SD 1.13 cm). This is the first study to investigate the relationship between pubic diastasis with continence outcomes and suggest that width of pubic diastasis can play a role in the surgical management of achieving continence in the IME population. These findings can assist in clinical decision making when considering the need for continence surgery in these patients, while also helping to manage patient and parent expectations.

#2

Bladder Exstrophy in a Female Fetus: Ultrasound and Autopsy Findings.

Fetal and pediatric pathology2026 Mar 04

Introduction: Bladder exstrophy (BE) is a congenital anomaly within the exstrophy-epispadias complex (EEC), characterized by a defect in the closure of the lower abdominal wall and bladder. Case report: A female fetus at 20 weeks + 2 days showed at ultrasound (US) a homogeneous echogenic mass with a lobulated surface, protruding from the anterior lower abdominal wall. The bladder was not visualized. Doppler US displayed umbilical arteries laterally to the mass. The kidneys appeared normal. Amniotic fluid was regular. Legal termination of pregnancy occurred at 21 weeks + 4 days. Autopsy grossly and histologically confirmed BE. Microscopically, BE was layered by an urothelial-like epithelial layer and underneath, the muscularis propria was disarrayed with scarce nerve fibers, evidenced by immunohistochemistry for S-100. Conclusion: In case of prenatal diagnosis of BE, multidisciplinary counseling is mandatory for appropriate clinical management.

#3

Psychiatric morbidity in bladder exstrophy-epispadias complex: A systematic review with a population-based case-control study.

Journal of pediatric urology2026 Feb 05

Bladder exstrophy and epispadias complex is a rare congenital anomaly with significant medical and psychosocial implications. We employed a dual approach to evaluate the prevalence and risk factors of psychiatric morbidity in bladder exstrophy and epispadias patients, by combining a systematic review with a retrospective national registry study. To evaluate the prevalence and risk factors of psychiatric morbidity in bladder exstrophy and epispadias complex. We conducted a systematic literature review following Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines, including studies on psychiatric disorders or symptoms and quality of life in bladder exstrophy and epispadias patients of all ages. Article quality was assessed using the Newcastle-Ottawa Scale. Prevalence data for psychiatric conditions and scores from psychiatric and quality-of-life questionnaires were extracted. Additionally, all bladder exstrophy and epispadias patients born in Finland 2001-2006 were identified from national registries. A matched and randomized control group without congenital malformations was selected from the same population. We evaluated the prevalence and risk factors for psychiatric diagnoses in this cohort. Of the 3850 retrieved results, 30 studies with 1179 participants were included. The overall prevalence of psychiatric morbidity was 31 %, [95 % CI 17 %-47 %]. Psychiatric morbidity was highest in adolescents, while morbidity in adults was comparable to the general population. In the Finnish cohort, 80 % (n = 16/20) of bladder exstrophy and epispadias patients had a psychiatric diagnosis compared to 26 % (n = 21/80) of the controls (OR 11.2, [95 % CI 3.37-37.4], p < 0.001). The severity of the anomaly, number of surgeries, maternal unemployment, or maternal psychiatric diagnosis were not significantly associated with increased psychiatric morbidity. Bladder exstrophy and epispadias is associated with an elevated risk of psychiatric morbidity. Our dual approach highlights the need for systematic mental health assessment and support in this population.

#4

Quality of life, mental health, and resilience in mothers of children with bladder exstrophy: Does family size matter?

Journal of pediatric urology2026 Feb 04

The challenges of raising a child with bladder exstrophy (BE) require parents to be strong and resilient in order to manage the crises that arise following the birth of a child with BE. This cross-sectional survey included mothers from our IRB-approved Exstrophy-Epispadias Complex Database. A comprehensive questionnaire was administered, incorporating the WHO Quality of Life Questionnaire (WHOQoL-BREF), General Health Questionnaire-28 (GHQ-28), and Connor-Davidson Resilience Scale (CD-RISC). Participants were divided into two groups: Group A included mothers with only one child affected by BE; Group B included mothers with more than one child, one of whom had BE. As a secondary analysis, Group B was subdivided based on whether the affected child was the firstborn or not, to assess the impact of birth order. Out of 150 mothers who were sent the questionnaire, 76 responded. Twenty-one were in Group A, while 55 were in Group B. Among Group B, 18 mothers (32.7 %) had their first child affected by BE, whereas in the other 37 mothers (67.3 %), the first child was unaffected and one of the subsequent children had BE. The total quality of life score was higher in Group B (3.2 vs. 2.9, p 0.020). Child's age, mother's age, and income had a significant influence on the quality of life score and its domains. The overall mental health score did not differ significantly between the groups (41.0 vs. 38.2, p 0.343). However, the depression domain was notably higher in Group A, indicating greater distress among mothers with only one child (9.4 vs. 6.6, p 0.044). Higher income was negatively associated with depression scores, suggesting a protective effect. The total resilience score was higher for mothers with multiple children (61.0 vs. 50.1, p 0.021). When Group B was divided into two subgroups based on birth order, no differences were observed between their scores across all measures. Mothers with several children, including one with BE, reported higher resilience and lower depression scores than those with just one affected child. Quality of life scores were also significantly better for mothers with multiple children. Income and the ages of both mother and child during the study influenced these results. Notably, older child age and higher income were linked to better domain-specific and overall quality-of-life scores. In contrast, older maternal age showed the opposite trend. Additionally, higher income was connected to lower depression scores.

#5

Ureteral versus appendiceal Mitrofanoff channels: a retrospective analysis of functional outcomes and complications.

BMC surgery2026 Feb 09

The Mitrofanoff principal entails creating a continent catheterizable channel, traditionally the appendix. In patients with nonfunctioning kidney, the ureter of this kidney can be an alternative This study aims to compare outcomes of ureter versus appendiceal Mitrofanoff channels (MCs). We retrospectively reviewed patients who underwent MC creation between January 2020 and June 2024 for patients with neurogenic bladder, exstrophy-epispadias complex, prune belly syndrome, or posterior urethral valves. Group A included patients who had a ureter as MC (n = 11), while Group B included those with an appendiceal MC (n = 33). Data on demographics, operative details, complications, and continence outcomes were collected and analyzed. Forty-four patients (Male patients = 24) were included, with a median age of 13.0 years (IQR 9.0-15.0) in Group A and 10.0 years (IQR 7.0-12.0) in Group B (p = 0.002). Myelomeningocele was the most common diagnosis in both groups. Bladder augmentation was performed in 81.8% of patients in each group, predominantly with ileo-cystoplasty. Satisfactory clean intermittent catheterization (CIC) without complications was achieved in 54.4% of Group A and 57.5% of Group B. Stomal stenosis occurred more frequently in Group B (18.2% vs. 9.1%, p = 0.003), while meatal granuloma was more common in Group A (27.3% vs. 9.1%, p = 0.043). Other complications included urine leakage, painful catheterization, catheterization difficulty, and intestinal obstruction, with no significant intergroup differences. Ureter as an MC offers a valid option for continent urinary diversion, demonstrating comparable continence outcomes as compared to appendiceal MC. The ureter represents a feasible and reliable alternative conduit in patients with a nonfunctioning kidney.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC189 artigos no totalmostrando 198

2026

Pubic diastasis as a predictor of continence outcomes in the isolated male epispadias patient: An innovative prognostic factor.

Journal of pediatric urology
2026

Bladder Exstrophy in a Female Fetus: Ultrasound and Autopsy Findings.

Fetal and pediatric pathology
2026

Psychiatric morbidity in bladder exstrophy-epispadias complex: A systematic review with a population-based case-control study.

Journal of pediatric urology
2026

Quality of life, mental health, and resilience in mothers of children with bladder exstrophy: Does family size matter?

Journal of pediatric urology
2026

Ureteral versus appendiceal Mitrofanoff channels: a retrospective analysis of functional outcomes and complications.

BMC surgery
2026

Robotic Mainz II pouch for restoring continence and volitional voiding in failed exstrophy-epispadias complex.

Indian journal of urology : IJU : journal of the Urological Society of India
2026

Multidisciplinary perioperative management of cloacal exstrophy bladder closure: A single institution's approach.

Journal of pediatric urology
2026

Health-related quality of life in Brazilian adults with bladder exstrophy-epispadias complex: a cross-sectional study on urinary continence, sexual function, and body image.

Journal of pediatric urology
2025

Lower Urinary Tract Symptoms in Patients with Congenital Genitourinary Anomalies.

Current urology reports
2025

Urinary tract anomalies and their role in pediatric stone formation.

World journal of urology
2026

Commentary to "Vaginoplasty in female bladder exstrophy-epispadias complex: Analysis of operative technique, outcomes, and complications".

Journal of pediatric urology
2025

Percutaneous Cystolitholapaxy and Open Cystolithotomy in Exstrophy-Epispadias Complex: A Comparative Approach to Bladder Stone Management.

Journal of endourology
2025

Management of pregnancy in a patient with previous surgical repair of classic bladder exstrophy.

International journal of surgery case reports
2025

Does incontinence in a child with bladder exstrophy negatively affect caregivers? A mental health inventory survey.

Journal of pediatric urology
2025

Bladder exstrophy: navigating long-term outcomes.

Translational andrology and urology
2025

Insertion of erectile device following phalloplasty in individuals assigned male at birth: a systematic review.

The journal of sexual medicine
2025

Medium- and long-term results of botulinum toxin injection in patients with bladder augmentation: A retrospective study and literature review.

Journal of pediatric urology
2025

Commentary to "Augmentation cystoplasty and continent catheterizable channels in the bladder exstrophy - epispadias complex: A 20-year experience".

Journal of pediatric urology
2025

Continence outcomes following reconstructive lower urinary tract surgery in incontinent adults and adolescents previously operated in childhood for exstrophy/epispadias complex.

Journal of pediatric urology
2025

Augmentation cystoplasty and continent catheterizable channels in the bladder exstrophy-epispadias complex: A 20-year experience.

Journal of pediatric urology
2025

Genetic analysis of two bladder exstrophy populations of South Asian and North American origin.

Journal of pediatric urology
2025

Umbilical morphometry and centile curves in boys aged 1-14 years: Establishing reference values for umbilical reconstruction.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Vaginoplasty in female bladder exstrophy-epispadias complex: Analysis of operative technique, outcomes, and complications.

Journal of pediatric urology
2025

Duplicate bladder exstrophy in a female infant: A case report.

Urology case reports
2025

A Comprehensive Review of the Complete Primary Repair Technique for Bladder-Exstrophy-Epispadias Reconstruction: First Surgical Attempt Should Be the Best One.

Urology journal
2025

Subperiosteal Tunneled Allograft Reconstruction of the Symphyseal Ligaments (STARS) in Bladder Exstrophy Epispadias Complex.

Journal of pediatric orthopedics
2024

Pathophysiology of Congenital Anomalies of the Kidney and Urinary Tract: A Comprehensive Review.

Cells
2025

Bladder exstrophy in adulthood: A narrative review of transitional health.

Journal of pediatric urology
2024

"Semen-oma": Sequestered Semen Collection From Urethral Stricture and Bladder Neck Closure in Exstrophy Reconstruction.

Cureus
2024

Mental health, psychosocial functioning, and health-related quality of life of children and adolescents with bladder exstrophy, cloacal exstrophy, and epispadias: A scoping review.

Journal of pediatric urology
2024

Management of cloacal exstrophy: Experience from tertiary hospital, Tanzania. Case series.

International journal of surgery case reports
2024

Adult patients treated for bladder exstrophy at a young age What are their current demands?

Canadian Urological Association journal = Journal de l'Association des urologues du Canada
2024

A Rocky Road: Bladder Stones in the Augmented Exstrophy-Epispadias Complex Patient.

Urology
2024

Redo surgery to improve urinary function, sexual function and cosmesis in male patients with exstrophy-epispadias complex complications. Technical principles and pearls based on case scenarios.

Journal of pediatric urology
2024

Radiographic calibration for pubic diastasis assessment in bladder exstrophy-epispadias complex: a phantom study.

Pediatric radiology
2024

Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex.

Frontiers in genetics
2024

Bladder exstrophy-epispadias complex: The effect of urotherapy on incontinence.

Journal of pediatric urology
2024

Updates on the Care of Cloacal Exstrophy.

Children (Basel, Switzerland)
2024

Ileo-caecal doughnut bladder augmentation in children with exstrophy- epispadias complex- a study of 100 cases.

Journal of pediatric urology
2024

Bilateral Obturator Osteotomy: A Novel Osteotomy for Bladder Exstrophy Closure.

Journal of pediatric surgery
2024

Palliative Care for Pediatric Urology.

Journal of pain and symptom management
2024

A catheterizable serous-lined urinary outlet associated with the ileal bladder augmentation Abol-Enein and Ghoneim procedure: a safe and reliable procedure in children.

Frontiers in pediatrics
2024

Adult patients treated for bladder exstrophy at a young age: What are their current demands?

Canadian Urological Association journal = Journal de l'Association des urologues du Canada
2024

Innervation pattern of the unclosed detrusor muscle in classic bladder exstrophy: a study of patients with urothelial overexpression of nerve growth factor.

Pediatric surgery international
2024

Urothelial carcinoma occurring in a defunctionalized bladder after urinary diversion due to the bladder exstrophy-epispadias complex.

IJU case reports
2024

Male epispadias repair: Outcomes at three sites prior to the establishment of a multi-institutional collaboration.

Journal of pediatric urology
2024

Interposing Rectus and Gracilis Muscle Flaps for Pelvic Reconstruction in Bladder Exstrophy after Bladder Neck Closure.

Plastic and reconstructive surgery
2024

The hidden burden of Pediatric urology in Sub-Saharan Africa: an analysis of hospital admission data from three East African Health Centres.

La Pediatria medica e chirurgica : Medical and surgical pediatrics
2024

Perioperative management of primary classic bladder exstrophy: A single institutional pathway to success.

Journal of pediatric urology
2024

The true pelvic volume change with various corrective osteotomy techniques for exstrophy-epispadias complex spectrum: the value of computer-assisted virtual surgery.

Journal of pediatric orthopedics. Part B
2024

["Epidemiology, diagnosis, treatment and follow-up of the bladder exstrophy-epispadias complex"].

Urologie (Heidelberg, Germany)
2024

De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.

American journal of medical genetics. Part A
2023

A Rare Case of Isolated Male Epispadias.

Cureus
2024

Long-Term Management of Problems in Cloacal Exstrophy: A Single-Institution Review.

Journal of pediatric surgery
2023

Multi-staged vs Single-staged Pelvic Osteotomy in the Modern Treatment of Cloacal Exstrophy: Bridging the Gap.

Journal of pediatric surgery
2023

Classic Bladder Exstrophy Closure Without Osteotomy or Immobilization: An Exercise in Futility?

Urology
2024

Prenatal Presentation of a Covered Cloacal Exstrophy Variant; Early Diagnostic Challenges Within the Broad Spectrum of the Exstrophy-Epispadias Complex.

Urology
2023

Initial experience with ACT™ periurethral adjustable balloons to treat urinary incontinence due to intrinsic sphincter deficiency in the pediatric population.

World journal of urology
2023

Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.

Biomolecules
2023

Three-dimensional Computed Tomography Scan of the Pelvic Bone in Isolated Epispadias: Analysis Before Surgical Correction.

Urology
2023

Classical bladder exstrophy in an adolescent: A case report on management, challenges and outcome.

African journal of paediatric surgery : AJPS
2024

Ensuring our exstrophy-epispadias complex patients and families thrive.

Pediatric nephrology (Berlin, Germany)
2023

Exstrophy-Epispadias Complex.

The Urologic clinics of North America
2023

Exstrophic bladder duplication in the sagittal plane: Surgical management of a rare case.

Journal of pediatric urology
2023

The impact of repeated bladder surgery on successful bladder neck closure in classic bladder exstrophy: The role of mucosal violations.

Journal of pediatric urology
2023

Prevalence of opioid and benzodiazepine use in adult patients with the exstrophy-epispadias complex.

Journal of pediatric urology
2023

Bladder exstrophy-epispadias complex related litigation: A legal database review.

The Medico-legal journal
2023

Modelling human lower urinary tract malformations in zebrafish.

Molecular and cellular pediatrics
2023

A Single Center's Changing Trends in the Management and Outcomes of Primary Closure of Classic Bladder Exstrophy: An Evolving Landscape.

Urology
2023

False-positive urine pregnancy screening tests are uncommon in the hospital setting among patients with bowel-containing urinary tract reconstruction.

Journal of pediatric urology
2023

Exstrophy-epispadias complex: are the kidneys and kidney function spared?

Pediatric nephrology (Berlin, Germany)
2023

Prenatal diagnosis of unusual variant of exstrophy-epispadias complex.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2023

Fixation with lower limb immobilization in primary and secondary exstrophy closure: A saving grace.

Journal of pediatric urology
2023

Preoperative and postoperative urinary NGAL levels in children with bladder exstrophy.

Journal of nephrology
2023

Preoperative Bladder Capacity Predicts Social Continence following Bladder Neck Reconstruction in Children Born with Exstrophy-Epispadias Complex.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2023

The exstrophy experience: A national survey assessing urinary continence, bladder management, and oncologic outcomes in adults.

Journal of pediatric urology
2023

Dextranomer Endoscopic Injections for the Treatment of Urinary Incontinence in Bladder Exstrophy-epispadias Complex.

The Journal of urology
2023

Application of Tunica Vaginalis Flap for Epispadias Repair in the Epispadias-Exstrophy Complex.

Urology
2022

Caregiver distress: A mixed methods evaluation of the mental health burden of caring for children with bladder exstrophy.

Frontiers in pediatrics
2022

A case of congenital cloacal exstrophy/omphalocele-exstrophy-imperforate anus-spinal defects syndrome and a successful pregnancy.

Clinical and experimental reproductive medicine
2022

Exstrophy-Epispadias Complex With Isolated Ectopic Bowel Segment: A Case Series and Literature Review.

Urology
2022

Commentary to "Sexual health outcomes after penile reconstruction in the exstrophy epispadias complex".

Journal of pediatric urology
2022

Prenatal diagnosis of diphallia in association with bladder exstrophy: a case report.

BMC pregnancy and childbirth
2022

Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophy-epispadias complex.

Journal of pediatric urology
2022

Insights and outcomes of single-staged repair of female bladder exstrophy-epispadias complex without osteotomy: 15 Years experience of a single institution.

Journal of pediatric urology
2022

Sexual health outcomes after penile reconstruction in the exstrophy-epispadias complex.

Journal of pediatric urology
2022

Can childbearing spinal cord injury women with continent cutaneous urinary diversion have child?

Urology annals
2022

Hip Prognosis in Patients With Congenital Diastasis of the Pubic Symphysis.

Journal of pediatric orthopedics
2022

Pelvic Floor Anatomical Variations in Children With Exstrophy-Epispadias Complex Using Magnetic Resonance Imaging.

Urology
2022

Delayed primary closure of bladder exstrophy without osteotomy: 12 year experience in a safe and gentle alternative to neonatal surgery.

Journal of pediatric surgery
2021

Genetic Counseling for Bladder Exstrophy-Epispadias Complex.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2022

Justin H. Kelly and his procedure for bladder exstrophy and epispadias.

Journal of pediatric surgery
2021

A Prevalence Estimation of Exstrophy and Epispadias in Germany From Public Health Insurance Data.

Frontiers in pediatrics
2021

Outcomes of Cystectomy with MAINZ Pouch II and Epispadias Repair in Exstrophy Epispadias Complex in Adults: A Single-centre Experience from Pakistan.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2022

Long-term active problems in patients with cloacal exstrophy: A systematic review.

Journal of pediatric surgery
2021

Hypospadias associated with partial bifid phallus: A case report.

Urology case reports
2021

The Genomic Architecture of Bladder Exstrophy Epispadias Complex.

Genes
2021

Bladder and urethral duplication and a bladder exstrophy plate with omphalocele in a female child.

Urology case reports
2021

Long-term outcome of urethral and genital reconstruction in hypospadias and exstrophy-epispadias complex.

Current opinion in urology
2021

Long-Term fate of the upper urinary tract and ITS association with continence in exstrophy patients.

Journal of pediatric urology
2021

Mitrofanoff external continent urinary diversion in the management of bladder exstrophy-epispadias complex in adolescents.

Urology case reports
2021

Exstrophy-Epispadias Complex Variants: A Hybrid Case.

Pediatric reports
2021

Complication profile of augmentation cystoplasty in contemporary paediatric urology: a 20-year review.

ANZ journal of surgery
2021

Pregnancy in Pateints With Exstrophy-Epispadias Complex: Are Higher Rates of Complications and Spontaneous Abortion Inevitable?

Urology
2021

Impact of bilateral ureteral reimplantation at the time of complete primary repair of bladder exstrophy on reflux rates, renogram abnormalities and bladder capacity.

Journal of pediatric urology
2021

Case Report: Recurrent Placental Abruption During Pregnancy in a Patient With Pseudoexstrophy.

Frontiers in medicine
2021

Long-term Kidney Outcomes in Exstrophy-Epispadias Complex: How Patients Present as Adults.

Urology
2021

Urothelial Differences in the Exstrophy-Epispadias Complex: Potential Implications for Management.

The Journal of urology
2021

Variant of Bladder Exstrophy With an Intact Penis: Surgical Options and Approach.

Urology
2021

Substitution Phalloplasty in Patients With Bladder Exstrophy-Epispadias Complex: A Systematic Review of Techniques, Complications and Outcomes.

The journal of sexual medicine
2020

[High risk pregnancy in patients with extrophy-epispadia complex: Uro-gynecological characteristics and management.].

Archivos espanoles de urologia
2020

Meeting report on the NIDDK/AUA Workshop on Congenital Anomalies of External Genitalia: challenges and opportunities for translational research.

Journal of pediatric urology
2021

New Insights on the Basic Science of Bladder Exstrophy-epispadias Complex.

Urology
2021

Pedicled Anterolateral Thigh and Radial Forearm Free Flap Phalloplasty for Penile Reconstruction in Patients With Bladder Exstrophy.

The Journal of urology
2021

Fertility and sexuality issues in congenital lifelong urology patients: female aspects.

World journal of urology
2021

Single-staged male bladder exstrophy-epispadias complex reconstruction with pubic bone adaptation without osteotomy: 15-year single-center experience.

International urology and nephrology
2020

SLC20A1 Is Involved in Urinary Tract and Urorectal Development.

Frontiers in cell and developmental biology
2020

Outcomes of inflatable penile prosthesis insertion using a neotunica allograft in neophalluses of patients on the bladder exstrophy-epispadias complex spectrum.

Journal of pediatric urology
2020

Re: The Cologne pouch procedure for continent anal urinary diversion in children with bladder exstrophy-epispadias complex. J Pediatr Urol. 2018.

Journal of pediatric urology
2020

Health-Related Quality of Life in Patients with the Bladder Exstrophy-Epispadias Complex and Relationship to Incontinence and Sexual Factors: A Review of the Recent Literature.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2020

Treatment Strategies and Outcome of the Exstrophy-Epispadias Complex in Germany: Data From the German CURE-Net.

Frontiers in pediatrics
2020

Salvage perineal-retropubic AUS cuff in paraplegic patient with exstrophy-epispadias complex after previous cuff erosion at bladder neck.

Urology case reports
2020

Long-term Follow-up of Exstrophy-epispadias Complex from a Lower-middle Income Country: A Case Report and Review of the Literature.

Cureus
2020

Variants in ALX4 and their association with genitourinary defects.

Andrology
2020

Delaying reclosure of bladder exstrophy leads to gradual decline in bladder capacity.

Journal of pediatric urology
2021

Challenges in pediatric urologic practice: a lifelong view.

World journal of urology
2021

Long-term sexual outcomes in patients with exstrophy-epispadias complex.

International journal of impotence research
2020

Bladder Herniation as an Auto-Augmentation Technique in Bladder Exstrophy: Initial Experience in Patients with Small Bladder Plate.

Urology
2021

Fertility and sexuality issues in congenital lifelong urology patients: male aspects.

World journal of urology
2020

Penile Disassembly in Complete Primary Repair of Bladder Exstrophy: Time for Re-evaluation?

Urology
2020

Utility of Skin Grafting and Tissue Expansion in Penile Reconstruction for the Exstrophy-Epispadias Complex.

Urology
2020

Urological, Sexual, and Quality of Life Evaluation of Adult Patients With Exstrophy-Epispadias Complex: Long-term Results From a Dutch Cohort.

Urology
2019

Penile Prosthesis Implantation in an Exstrophy-Epispadias Complex Patient: A Case Report.

Sexual medicine
2020

Urinary Continence Outcomes in Classic Bladder Exstrophy: A Long-Term Perspective.

The Journal of urology
2019

Classic bladder exstrophy and adenocarcinoma of the bladder: Methylome analysis provide no evidence for underlying disease-mechanisms of this association.

Cancer genetics
2019

Anatomy of Classic Bladder Exstrophy: MRI Findings and Surgical Correlation.

Current urology reports
2019

Current Indications and Techniques for the Use of Bowel Segments in Pediatric Urinary Tract Reconstruction.

Frontiers in pediatrics
2019

Use of small intestinal submucosa for corporal body grafting in cases of epispadias and epispadias/exstrophy complex.

Journal of pediatric urology
2019

Exploration of Practice Patterns in Exstrophy Closures: A Comparison Between Surgical Specialties Using a National and Institutional Database.

Urology
2019

Anteroposterior Duplicated Exstrophy: A Case Report.

Urology
2019

Isolated bladder exstrophy in prenatal diagnosis.

Archives of gynecology and obstetrics
2019

Impact of pelvic immobilization techniques on the outcomes of primary and secondary closures of classic bladder exstrophy.

Journal of pediatric urology
2019

Complex abdominal wall reconstruction combined with bladder closure in OEIS complex.

Journal of pediatric surgery
2019

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.

Molecular genetics &amp; genomic medicine
2019

The dual-staged pathway for closure in cloacal exstrophy: Successful evolution in collaborative surgical practice.

Journal of pediatric surgery
2019

The failed bladder closure in cloacal exstrophy: Management and outcomes.

Journal of pediatric surgery
2019

Complete penile disassembly in epispadias repair.

International urology and nephrology
2019

Re: The Role of Human Acellular Dermis in Preventing Fistulas after Bladder Neck Transection in the Exstrophy-Epispadias Complex.

The Journal of urology
2019

Health-related quality of life among children, adolescents, and adults with bladder exstrophy-epispadias complex: a systematic review of the literature and recommendations for future research.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation
2019

Split-appendix Technique for Simultaneous Use in the Mitrofanoff Principle and Posterior Urethral Substitution in a Bladder Exstrophy-Epispadias Complex Patient.

Journal of Indian Association of Pediatric Surgeons
2019

Management of cavernous abdominal wall defects post radical cystectomy in adult exstrophy complex.

BMJ case reports
2019

22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.

American journal of medical genetics. Part A
2018

Needs Assessment in Care of Adults With Anorectal Malformations and Exstrophy-Epispadias Complex in Germany.

Frontiers in pediatrics
2018

WITHDRAWN: Editorial Comment for manuscript "Variant Presentations of the Exstrophy-Epispadias Complex: A 40-Year Experience" Manuscript Number: URL-D-18-01394R1.

Urology
2019

Variant Presentations of the Exstrophy-Epispadias Complex: A 40-Year Experience.

Urology
2018

Towards a Central Role of ISL1 in the Bladder Exstrophy⁻Epispadias Complex (BEEC): Computational Characterization of Genetic Variants and Structural Modelling.

Genes
2018

Early detection of deep wound infection in bladder exstrophy and hypospadias using a novel intervention.

Journal of wound care
2020

Modern Management of the Failed Bladder Exstrophy Closure: A 50-yr Experience.

European urology focus
2018

Surgical Management of Complete Procidentia in a Female Patient with Bladder Exstrophy-epispadias Complex: Case Report and Literature Review.

Gynecology and minimally invasive therapy
2019

Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study.

Urology
2018

Single-stage Abdominoplasty Using Groin Flaps Without Osteotomies: Management of Exstrophy-epispadias Complex.

Urology
2018

The Cologne pouch procedure for continent anal urinary diversion in children with bladder exstrophy-epispadias complex.

Journal of pediatric urology
2019

Predictors of a successful primary bladder closure in cloacal exstrophy: A multivariable analysis.

Journal of pediatric surgery
2018

Predictors and outcomes of perioperative blood transfusions in classic bladder exstrophy repair: A single institution study.

Journal of pediatric urology
2018

The inadequate bladder template: Its effect on outcomes in classic bladder exstrophy.

Journal of pediatric urology
2018

Combined Bladder Neck Reconstruction and Continent Stoma Creation as a Suitable Alternative for Continence in Bladder Exstrophy: A Preliminary Report.

Urology
2018

The Role of Human Acellular Dermis in Preventing Fistulas After Bladder Neck Transection in the Exstrophy-epispadias Complex.

Urology
2018

Female epispadias: Single-stage approach - A technique to achieve continence.

Journal of pediatric urology
2018

Achieving urinary continence in cloacal exstrophy: The surgical cost.

Journal of pediatric surgery
2018

A Model for Sustained Collaboration to Address the Unmet Global Burden of Bladder Exstrophy-Epispadias Complex and Penopubic Epispadias: The International Bladder Exstrophy Consortium.

JAMA surgery
2018

Genital Mobilization of Intravesical Phallus Associated With Covered Cloacal Exstrophy: A Case Report.

Urology
2018

Surgical and endoscopic treatment of bladder exstrophy-epispadias complex in a female dog.

Journal of the American Veterinary Medical Association
2018

Male Sexuality, Fertility, and Urinary Continence in Bladder Exstrophy-Epispadias Complex.

The journal of sexual medicine
2018

Bladder Re-augmentation in Classic Bladder Exstrophy: Risk Factors and Prevention.

Urology
2018

Pelvic and lower extremity immobilization for cloacal exstrophy bladder and abdominal closure in neonates and older children.

Journal of pediatric surgery
2018

Preoperative care of Polypoid exposed mucosal template in bladder exstrophy: the role of high-barrier plastic wraps in reducing inflammation and polyp size.

International braz j urol : official journal of the Brazilian Society of Urology
2018

Sexual Function and Quality of Life in Adult Male Individuals with Exstrophy-Epispadias Complex-a Survey of the German CURE-Network.

Urology
2018

Isl1 mediates mesenchymal expansion in the developing external genitalia via regulation of Bmp4, Fgf10 and Wnt5a.

Human molecular genetics
2018

Autophagy, Apoptosis, and Cell Proliferation in Exstrophy-Epispadias Complex.

Urology
2017

Imperforate Hymen: Varied Presentation, New Associations, and Management.

Journal of Indian Association of Pediatric Surgeons
2018

Cystectomy in the Pediatric Exstrophy Population: Indications and Outcomes.

Urology
2017

Image of the Month: Clinical Features in a Newborn with Covered Cloacal Exstrophy.

European journal of pediatric surgery reports
2017

Pregnancy outcomes among patients with prior bladder exstrophy.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2017

Exstrophy Bladder - Reconstruction or Diversion for the Underprivileged.

Indian journal of pediatrics
2017

The Surgical Management of Bladder Polyps in the Setting of Exstrophy Epispadias Complex.

Urology
2017

[The German research network CURE-Net : A benefit for patients with rare diseases].

Der Urologe. Ausg. A
2017

Patient-Reported Impact of Pelvic Organ Prolapse on Continence and Sexual Function in Women With Exstrophy-Epispadias Complex.

Female pelvic medicine &amp; reconstructive surgery
2017

Psychosexual development management of bladder exstrophy epispadias in complex patients.

Journal of pediatric urology
2017

High prevalence of same-sex twins in patients with cloacal exstrophy: Support for embryological association with monozygotic twinning.

Journal of pediatric surgery
2017

Low-dose Human Chorionic Gonadotropin Stimulation Test as a Prognostic Incontinent Indicator in Boys With Bladder Exstrophy-epispadias Complex.

Urology
2017

Complications of bladder closure in cloacal exstrophy: Do osteotomy and reoperative closure factor in?

Journal of pediatric surgery
2017

Comparing the bulking effect of calcium hydroxyapatite and Deflux injection into the bladder neck for improvement of urinary incontinence in bladder exstrophy-epispadias complex.

International urology and nephrology
2017

Qualitative questionnaire on the psychosocial wellbeing of mothers of children with BEEC.

Journal of pediatric urology
2016

Isolated Male Epispadias: Anatomic Functional Restoration Is the Primary Goal.

BioMed research international
2016

The long-term outcomes after staged repair of exstrophy-epispadias complex.

Journal of Indian Association of Pediatric Surgeons
2016

Re: Pediatric Surgical Complications of Major Genitourinary Reconstruction in the Exstrophy-Epispadias Complex.

The Journal of urology
2016

Spontaneous bladder rupture in non-augmented bladder exstrophy.

Journal of pediatric urology
2017

Evaluation of sexual function in females with exstrophy-epispadias-complex: A survey of the multicenter German CURE-Net.

Journal of pediatric urology

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Pubic diastasis as a predictor of continence outcomes in the isolated male epispadias patient: An innovative prognostic factor.
    Journal of pediatric urology· 2026· PMID 41785523mais citado
  2. Bladder Exstrophy in a Female Fetus: Ultrasound and Autopsy Findings.
    Fetal and pediatric pathology· 2026· PMID 41778963mais citado
  3. Psychiatric morbidity in bladder exstrophy-epispadias complex: A systematic review with a population-based case-control study.
    Journal of pediatric urology· 2026· PMID 41719822mais citado
  4. Quality of life, mental health, and resilience in mothers of children with bladder exstrophy: Does family size matter?
    Journal of pediatric urology· 2026· PMID 41713335mais citado
  5. Ureteral versus appendiceal Mitrofanoff channels: a retrospective analysis of functional outcomes and complications.
    BMC surgery· 2026· PMID 41664006mais citado
  6. Long-term Outcomes of Bladder Exstrophy-Epispadias Complex: A Multicenter Study by Indian Association of Pediatric Surgeons.
    J Indian Assoc Pediatr Surg· 2026· PMID 41958798recente
  7. Long-term outcomes and risk factors for reoperation after ileal augmentation in children: A single-center study.
    J Pediatr Urol· 2026· PMID 41903288recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:322(Orphanet)
  2. OMIM OMIM:258040(OMIM)
  3. MONDO:0017919(MONDO)
  4. GARD:2207(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q32137168(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Complexo de extrofia da bexiga-epispádias
Compêndio · Raras BR

Complexo de extrofia da bexiga-epispádias

ORPHA:322 · MONDO:0017919
Prevalência
Unknown
Herança
Multigenic/multifactorial
CID-10
Q64.1 · Extrofia vesical
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1838703
EuropePMC
Wikidata
Papers 10a
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