Distúrbio esquelético raro caracterizado por nanismo, anomalias craniofaciais graves e múltiplos dentes não irrompidos.
Introdução
O que você precisa saber de cara
Distúrbio esquelético raro caracterizado por nanismo, anomalias craniofaciais graves e múltiplos dentes não irrompidos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 28 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 71 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activati
Cell membraneNucleusCytoplasm, cytosolCytoplasmic vesicle
Pfeiffer syndrome
A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).
Variantes genéticas (ClinVar)
468 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
22 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Nanismo osteoglofônico
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
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
p63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials.
As a pivotal member of the p53 family, the p63 gene plays an indispensable role in skin homeostasis and development. The gene encodes multiple isoforms, primarily TAp63 and ΔNp63, which differentially regulate cell proliferation, differentiation, and stress responses through complementary mechanisms. This comprehensive review systematically examines the molecular mechanisms and cellular functions of p63 in cutaneous biology, with particular emphasis on its dual roles in maintaining skin integrity and contributing to disease pathogenesis. We detail the essential functions of p63 in skin development, encompassing epithelial fate determination, chromatin remodeling, cell adhesion, and barrier formation, while also exploring its involvement in skin regeneration and differentiation via metabolic reprogramming and stem cell modulation. Furthermore, we analyze how mutations in p63 underlie ectodermal dysplasia and various dermatological disorders, underscoring the gene's fundamental importance in cutaneous health. By integrating current knowledge of the diverse biological roles of p63 and its associated therapeutic potential as a target, this review highlights its central significance in both skin physiology and pathology.
Survival After Pancreatic Resection for Intraductal Papillary Mucinous Neoplasm: Supporting Selective Surgery.
Resection of intraductal papillary mucinous neoplasm (IPMN) aims to prevent progression to invasive pancreatic cancer. However, the risks of pancreatic surgery and frequent findings of low-grade dysplasia (LGD) raise concerns about overtreatment. This EAHPBA-endorsed multinational study evaluated short- and long-term overall survival (OS) following preventive resection for IPMN (without pre-operative signs of cancer). Adult patients with resected IPMN showing LGD, high grade dysplasia (HGD) or T1-staged invasive carcinoma from 2008-2023 were identified from the OPTIMAL-IPMN database. Estimated OS rates at one, five and 10 years in patients undergoing preventive pancreatic resection were assessed using Kaplan-Meier analyses and predictors for mortality were evaluated using parametric survival regressions. Among 2275 patients in the OPTIMAL-IPMN database, 1728 (77%) had undergone preventive pancreatic resection for IPMN. Of those were 61% resected without prior surveillance. Final pathology revealed LGD in 63%, HGD in 27% and T1a-c-staged invasive cancer in 10% (7.3% T1a-b, 2.8% T1c). Estimated 1-year OS rate was 97%. Estimated 5-year OS rates (landmark analysis at 1 year) for LGD, HGD, T1a-b, and T1c was 97%, 99%, 96% and 91% respectively. Independent predictors for long-term mortality included age ≥ 75 versus < 75 years (HR 1.97) and T1c versus LGD (HR 8.12). This multinational study confirms excellent survival after preventive IPMN resection but reveals many upfront resections yielding LGD with unknown survival benefit. Future studies should aim to determine which patients can be followed safely with monitoring to avoid unnecessary immediate resection.
Modulation of Alveolar Macrophages by Sex as a Biological Variable.
Background: Alveolar macrophages (AMs) play a key role in the innate immune system and the pathogenesis of bronchopulmonary dysplasia (BPD), a condition with a significant sex bias. However, the influence of biological sex on AM immunometabolism remains poorly defined. Objective: We tested the hypothesis that female AMs would exhibit greater metabolic resilience (less impact on their mitochondrial function) compared to male AMs upon exposure to hyperoxia. Methods: We characterized bioenergetic profiles of male (MH-S) and female (AMJ2-C11) adult murine AM cell lines and primary neonatal AMs from C57BL/6 pups. Oxygen consumption (OCR) and extracellular acidification rates (ECAR) were quantified using Seahorse extracellular flux analysis at baseline and following 48 hours of hyperoxia (85% O2). Results: Adult female AMs displayed an elevated basal and maximal respiration compared to males. Upon exposure to hyperoxia, female AMs showed decreased maximal OCR and spare respiratory capacity. Conversely, male AMs showed little change in oxidative phosphorylation. Uniquely, neonatal AMs of both sexes show a suppression in their mitochondrial function upon exposure to hyperoxia, but the decline is more significant in the male macrophages. In addition, the neonatal female macrophages also showed a higher glycolytic reserve compared to their baseline in room air, upon exposure to hyperoxia. Conclusions: Biological sex and developmental stage are fundamental determinants of AM bioenergetics. These intrinsic sex-specific mechanisms may underlie differential susceptibility to neonatal lung injury, underscoring the necessity of sex-specific therapeutic strategies.
Dysbiotic microbiota trigger colitis-associated colorectal cancer and imprint a distinctive bile acid profile in a PSC-IBD model.
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Total biopsy via endoscopic submucosal dissection is useful for the diagnosis of neoplastic lesions in patients with ulcerative colitis.
Ulcerative colitis-associated neoplasia (UCAN) and sporadic neoplasia require different treatment strategies; their differential diagnosis is based on endoscopic findings and biopsy results. However, accurate diagnosis is sometimes difficult. Similarly, it is often challenging to evaluate invasion depth. Recently, their diagnosis has become possible pathologically, following endoscopic UCAN resection. This study investigated whether endoscopic submucosal dissection (ESD) is useful as a treatment or diagnostic (total biopsy) modality for neoplastic lesions within the inflammatory region in patients with ulcerative colitis. We retrospectively reviewed the characteristics, accuracy of endoscopic diagnosis, results of ESD, adverse events, and changes in therapeutic strategy after ESD for 27 neoplastic lesions (15 UCANs and 12 sporadic neoplasias) occurring within the inflammatory region of ulcerative colitis in patients at our institution between January 2016 and September 2023. UCANs had significantly more non-polypoid morphology (P = 0.037) and inflammation around the neoplasia (P = 0.010). The diagnostic accuracy for low-grade dysplasia was higher in sporadic neoplasias than in UCANs. ESD results (en bloc resection/R0 resection) were similar between UCANs (100%/86.7%) and sporadic neoplasias (91.7%/83.3%). The incidence of intraoperative perforation and delayed bleeding was comparable. In eight lesions (29.6%), accurate pathological diagnosis via ESD prompted changes in the pre-ESD treatment strategy. Notably, surgical resection was avoided in three lesions (11.1%), including one UCAN lesion reclassified from high-grade dysplasia to low-grade dysplasia and two sporadic neoplasia lesions initially diagnosed as UCANs. ESD results of patients with ulcerative colitis were acceptable. ESD may be a useful modality for optimal treatment planning.
Publicações recentes
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VideoGIE : an official video journal of the American Society for Gastrointestinal EndoscopySaline-tunneling endoscopic submucosal dissection for residual rectal lesion at anastomotic staple line.
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JCEM case reportsTwo secondary aneurysmal bone cysts associated with mandibular fibrous dysplasia: a rare case and literature review.
International journal of surgery case reportsIlizarov correction of extreme anterior tibial bowing (≈100°) secondary to fibrous dysplasia: a case report from Afghanistan.
International journal of surgery case reportsManagement of proximal femoral focal deficiency with limited resources amid war in a child with multiple skeletal deformities: a case report.
International journal of surgery case reportsMuscle and physical functions after one-stage total hip arthroplasty with shortening subtrochanteric osteotomy in an old-old patient with bilateral Crowe IV developmental dysplasia dislocated into the gluteal muscles: a case report.
International journal of surgery case reportsMucinous cystic neoplasm of the liver with biliary communication: a great imitator, diagnostic dilemma and surgical challenge.
Journal of surgical case reportsFirst reported case of developmental dysplasia of the hips in a child with 3M syndrome: a case report.
Journal of surgical case reportsLow-grade mucinous neoplasm arising in a completely isolated duplication cyst of the abdominal wall: a unique case report.
Journal of surgical case reportsDetection of anal squamous dysplasia at routine colonoscopy in 121 patients: implications for anal cancer screening.
Proceedings (Baylor University. Medical Center)A Cemented Total Hip Arthroplasty Without Osteotomy for Severe Femoral Deformity in Fibrous Dysplasia: A Case Report.
CureusHidden morphological clues in deceptive bone marrow pathologies.
Annales de biologie cliniqueImmune Landscape Reveals Biomarkers for High-Risk Oral Tongue Dysplasia.
Journal of dental researchExtracellular vesicle-mediated transcellular mitophagy as a modulatory target for moderate hyperoxia-induced alveolar developmental arrest in bronchopulmonary dysplasia.
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Journal of bone and mineral metabolismArterial spin labeling performs comparably to 2-[18F]fluoro-2-deoxy-D-glucose positron emission tomography for presurgical evaluation in pediatric lesional epilepsy.
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International journal of molecular sciencesCervicovaginal Microbiome Signatures Across Cervical Disease States: A Prospective Cross-Sectional Analysis.
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Diagnostics (Basel, Switzerland)Colitis-Associated Carcinoma: The Quintessential Epithelial Neoplasia Driven by Chronic Inflammation.
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Acta neuropathologica communicationsTrajectory of lung ultrasound scores in preterm infants at risk for bronchopulmonary dysplasia.
Journal of perinatology : official journal of the California Perinatal AssociationAssociation between risk-adjusted mortality and severe morbidity in very low birth weight infants: a multicenter study from the NEOCOSUR network.
Journal of perinatology : official journal of the California Perinatal AssociationHealth-Related Quality-of-Life and its Determinants After Acute Coronary Syndrome Caused by Spontaneous Coronary Artery Dissection.
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BMJ open gastroenterologyAdherence to developmental dysplasia of the hip screening guidelines among French healthcare providers: a cross-sectional survey.
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Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCThe impact of Assisted Reproductive Technology on the neonatal prognosis of newborns < 29 weeks gestational age: a retrospective case-control study.
Journal of gynecology obstetrics and human reproductionComparison of Four Sedation and Anaesthesia Protocols during Stress Radiography of the Coxofemoral Joint Using a Distension Device Modified for Force Measurements.
Veterinary and comparative orthopaedics and traumatology : V.C.O.TSex-Based Differences in Outcomes, Clinical Benefit, and Survivorship in Patients With Borderline Hip Dysplasia Undergoing Hip Arthroscopy at a Minimum 5-Year Follow-up: A Propensity-Matched Comparison Study.
The American journal of sports medicineA case of solitary bone plasmacytoma to multiple myeloma: a case report.
Frontiers in medicineEndometriosis presenting as a rectal stricture in a patient with ulcerative colitis and primary sclerosing cholangitis: a case report.
Frontiers in gastroenterology (Lausanne, Switzerland)Gastrointestinal endoscopy for intestinal dysplasia and neoplasia detection and management in Crohn's disease: when and how?
Frontiers in gastroenterology (Lausanne, Switzerland)Pathogenic SGMS2 variants are not a common cause of early-onset osteoporosis among Finnish patients.
Frontiers in endocrinologyLeft-sided gall bladder: From surprise to safe exit.
Journal of minimal access surgeryApplication of Cytokines in Cervical Secretion for High-grade Squamous Intraepithelial Lesion Caused by High-risk Human Papillomavirus Infection.
Biomedical and environmental sciences : BESGene Panel Versus Whole Exome Sequencing for Fetal Anomalies.
Prenatal diagnosisExamining the role of biologic sex on kidney outcomes in preterm neonates: A secondary analysis of the PENUT/REPAIReD study.
Pediatric nephrology (Berlin, Germany)BPD-Neo: An MRI Dataset for Lung-Trachea Segmentation with Clinical Data for Neonatal Bronchopulmonary Dysplasia.
Scientific dataEvaluation of the Overbite Depth Indicator and Anteroposterior Dysplasia Index in a Sample of the Arab Population.
The journal of contemporary dental practiceRe-evaluating routinely collected clinical and laboratory parameters in the preoperative risk assessment of intraductal papillary mucinous neoplasms: model development and internal validation.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]Omics approaches to bronchopulmonary dysplasia: a first step in the right direction?
ThoraxDiagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.
Journal of medical geneticsAcute myeloid leukaemia (AML) harbouring KMT2A-PTD: should it be considered as a myelodysplasia-related abnormality?
Journal of clinical pathologyBisphenol S exposure before sexual maturity impairs follicular development via Cathepsin L-mediated granulosa cell death.
Ecotoxicology and environmental safetyCurrent status of early diagnosis of developmental dysplasia of the hip more than 10 years after program implementation: a multicenter study of cases diagnosed in 2023.
Orthopaedics & traumatology, surgery & research : OTSRSignet-ring Cell Pattern in Pancreatic Juice Cytology Indicates Intestinal-type Intraductal Papillary Mucinous Neoplasm with High-grade Dysplasia or Invasive Carcinoma.
Acta cytologicaArtificial intelligence for diagnosis and triage in oral cancer: a clinician‑centered narrative review.
International journal of clinical oncologyCost-Effectiveness of Smoking Cessation Among Survivors of Cervical Intraepithelial Neoplasia or Cervical Cancer.
JAMA network openProximal fragment perfusion following hip arthroplasty with subtrochanteric shortening osteotomy in cases with severe developmental dysplasia of the hip.
Turkish journal of medical sciencesUreteric squamous cell carcinoma in a duplex collecting system presenting with chronic obstructive uropathy: a rare case report.
International journal of surgery case reportsThe Impact of Hiatus Hernia Size on Dysplasia Progression in Patients With Barrett's Esophagus.
JGH open : an open access journal of gastroenterology and hepatologyBilateral Clubfoot in Nail-Patella Syndrome: A Rare Syndromic Case Successfully Treated with the Ponseti Method.
Journal of orthopaedic case reportsNormal or Not? Acetabular Morphology Is Not a Binary Classification.
The Journal of the American Academy of Orthopaedic SurgeonsFlavin adenine dinucleotide increases antioxidant availability and protects neonatal C57Bl6 lungs from high oxygen induced lung injury.
American journal of physiology. Cell physiologyHPV, Cytology, and Cotest Cervical Cancer Screening and the Risk of Precancer.
JAMA network open[Clinical phenotype and genetic analysis of a fetus with abnormal development due to a rare paternal t(10;14)(p11.2;p11) translocation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics[Analysis of clinical features and genetic variants in a Chinese pedigree affected with Spondyloepiphyseal dysplasia type Ehlers-Danlos syndrome due to variants of B3GALT6 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics[Clinical phenotype and genetic analysis of a child with CAKUTHED syndrome due to variant of PBX1 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics[Application of SNP linkage-based PGT-M to block the transmission of EFNB1 deletion in a Chinese family affected with Cranio-facial-nasal syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCardioacrofacial dysplasia 1: a case report and literature review.
Translational pediatricsPediatric Hepatocyte Nuclear Factor 1B (HNF1B) Disease: Diabetes and Endocrine Manifestations.
Pediatric diabetesEndoscopic characterization and development of a prediction model for colorectal adenomatous polyps.
World journal of gastrointestinal surgeryPrenatal Detection of Proximal Femoral Focal Deficiency (PFFD) in Limited Resource Setting: A Case Report.
International medical case reports journalHistopathological and Molecular Features of Adenomatous and Serrated Colon Adenomas, Characteristics and Overlapping Features, Challenges in the Nomenclature.
Turk patoloji dergisi[Coupled finite element analysis of the hip joint and spine in normal individuals and patients with developmental dysplasia of the hip].
Zhongguo gu shang = China journal of orthopaedics and traumatologyDissecting the differentiation origins of intestinal metaplasia and early intestinal-type gastric cancer in gastric antrum by single-cell RNA profiling.
NPJ precision oncologyImmunological Biomarkers in Oral Leukoplakia According to Oral Intraepithelial Neoplasia (OIN) Classification: A Comparative Analysis of Salivary and Plasma Cytokines.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral PathologyInterpreting the emerging role of quantitative perfusion assessment after closed reduction in developmental dysplasia of the hip.
Skeletal radiologyGene-Environment Interaction in the Pathogenesis of Craniofacial Microsomia: A Narrative Review.
The Journal of craniofacial surgerySleep magnetoencephalography enhances detection and source imaging of seizures and fast oscillations in focal cortical dysplasia.
EpilepsiaDiagnostic reassessment in patients previously diagnosed with childhood-onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center.
Epilepsia openThe Value of Cord Blood CXCL10 and MMP8 as Biomarkers in Predicting Bronchopulmonary Dysplasia- A Retrospective Cohort Study.
International journal of general medicineImpaired mitophagy contributes to osteogenesis and mineralization disorders in fibrous dysplasia.
AutophagyAnalysis of factors associated with cervical cancer and precancerous lesions.
Scientific reportsEpilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.
Nature communicationsMitochondria-derived peptide MOTS-c alleviates hyperoxia-induced bronchopulmonary dysplasia in neonatal mice by activating Nrf2 pathway.
European journal of pharmacologyEuropean Consensus Guidelines on the Management of Respiratory Distress Syndrome - 2025.
Neonatology[Neurogenic hip dysplasia and hip dislocation : Pathophysiology, clinical presentation, and management in the context of cerebral palsy].
Orthopadie (Heidelberg, Germany)High-Frequency Oscillation vs Mechanical Ventilation for Neonatal Acute Respiratory Distress Syndrome: A Randomized Clinical Trial.
JAMA network openMarked regression of calcinosis with canakinumab in hyperphosphatemic familial tumoral calcinosis.
JBMR plusCurrent Trends and Future Directions in the Diagnosis and Management of Pediatric Orthopedic Disorders.
CureusPrevalence, perinatal risk factors and clinical outcomes of respiratory Ureaplasma species colonization in hospitalized preterm infants.
Frontiers in pediatricsGenotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases.
Frontiers in endocrinologyA Novel Homozygous CUL7 Variant in an Iranian Patient Expands the Genetic Spectrum of 3 M Syndrome.
Clinical case reportsClinical evidence on a Coriolus versicolor-based vaginal gel for HPV-related cervical disease: a narrative review.
Chinese clinical oncologyDeep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.
Clinical geneticsPhysalin A interferes with cell cycle in human oral squamous carcinoma cells via DNA topoisomerase II/ATM/ATR/Chk signaling for G2/M phase arrest.
Archives of biochemistry and biophysicsProgression of esophageal atresia associated Barrett's esophagus in adulthood - Is endoscopic surveillance worth it?
Journal of pediatric surgeryA Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.
Experimental dermatologyFactors Associated With Oral Epithelial Dysplasia in Oral Potentially Malignant Disorders.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsInterleukin-27 promotes oral squamous cell carcinoma pathogenesis via FSIP1-mediated activation of the PI3K-Akt signaling pathway.
Biochimica et biophysica acta. General subjectsEfficient self-supervised Barlow Twins from limited tissue slide cohorts for colonic pathology diagnostics.
Medical image analysisECMO use in infants with bronchopulmonary dysplasia: a literature review.
Journal of perinatology : official journal of the California Perinatal AssociationArtificial intelligence assistance improves endoscopist accuracy for gastric cancer dysplasia and intestinal metaplasia.
Scientific reportsRisk factors for recurrence of vulvar high-grade squamous intra-epithelial lesions: long-term follow-up of the PITVIN Study (primary imiquimod vs surgery for vulvar intra-epithelial neoplasia).
International journal of gynecological cancer : official journal of the International Gynecological Cancer SocietyAssociações
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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.
- p63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials.
- Survival After Pancreatic Resection for Intraductal Papillary Mucinous Neoplasm: Supporting Selective Surgery.
- Modulation of Alveolar Macrophages by Sex as a Biological Variable.American journal of physiology. Lung cellular and molecular physiology· 2026· PMID 41874349mais citado
- Dysbiotic microbiota trigger colitis-associated colorectal cancer and imprint a distinctive bile acid profile in a PSC-IBD model.
- Total biopsy via endoscopic submucosal dissection is useful for the diagnosis of neoplastic lesions in patients with ulcerative colitis.
- 6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2645(Orphanet)
- OMIM OMIM:166250(OMIM)
- MONDO:0008150(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55781317(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