Síndrome dismórfica/anomalias congénitas múltiplas, letal, rara e caracterizada pela associação de sequência de acinesia fetal, microftalmia bilateral, microtia e truncus arteriosus persistente. Características dismórficas adicionais incluem fronte proeminente, nariz pequeno, micrognatia, e camptodactilia e sinfalangismo. Foram descritas contraturas de grandes articulações e micropénis.
Introdução
O que você precisa saber de cara
Síndrome dismórfica/anomalias congénitas múltiplas, letais, raras e descritas pela associação de sequência de acinesia fetal, microftalmia bilateral, microtia e truncus arteriosus persistente. Características dismórficas adicionais incluem fronte proeminente, nariz pequeno, micrognatia, e camptodactilia e sinfalangismo. Foram descritas contraturas de grandes articulações e micropênis.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 15 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
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 — Síndrome de microftalmia-microtia-acinesia fetal
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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
Takotsubo Syndrome Following Inhalation of K4: A Case Report.
Takotsubo syndrome (TS), also known as stress cardiomyopathy, is a clinical condition characterized by transient left ventricular dysfunction in the absence of coronary artery disease findings. The most widely accepted mechanism suggests a trigger, either physical or emotional stress, which causes catecholamine release and results in myocardial stunning and contractility alterations. Clinically and analytically, it can mimic acute coronary syndromes. Synthetic cannabinoids, such as the inhaled drug K4, are more powerful than phytocannabinoids and act as strong agonists of cannabinoid receptors, stimulating the sympathetic nervous system, which can serve as a trigger for TS. We report a case of a 59-year-old man with a personal history of schizophrenia and drug addiction, admitted to the emergency room for severe dyspnea and psychomotor agitation. Prior to the onset of symptoms, he had reportedly used the inhaled drug K4. Due to markedly elevated high-sensitivity troponin I and electrocardiographic changes suggestive of myocardial ischemia, an echocardiogram was performed, revealing severe left ventricular dysfunction with mid-apical akinesia of all cardiac walls. Cardiac catheterization showed no significant coronary disease. The patient was diagnosed with TS. After excluding other potential triggers, the use of inhaled K4 was considered the most likely trigger for TS.
The role of adrenergic receptors and sex steroid hormones in takotsubo syndrome.
Takotsubo syndrome (also known as stress-induced cardiomyopathy or takotsubo cardiomyopathy) is an acute, reversible left ventricular dysfunction typically triggered by emotional or physical stress. TS is a rare but dangerous disease. In-hospital mortality in patients with TS is identical to mortality of patients with ST-segment elevation myocardial infarction. There is no obstructive coronary plaque or thrombosis in patients with TS, but there is injury of both cardiomyocytes and endothelial cells. The main manifestations of TS are apical akinesia and apical ballooning. The main cause of death in patients with TS is cardiogenic shock. The excessive release of endogenous catecholamines is a trigger of TS. There is evidence that TS is a consequence of β1-adrenergic receptor (β1-AR) overstimulation by catecholamines. The protein kinase A inhibitor H-89 partially reversed stress-induced cardiac injury in rats with TS model (TSM). The β2-AR antagonist ICI-118,551 exacerbated cardiac injury in TSM. The β2-AR agonist formoterol partially reversed cardiac injury in TSM. The β3-AR antagonist L-748337 had no effect on TSM. These findings indicate that the activation of β1-AR plays a key role in the pathogenesis of cardiac injury in TSM. In contrast, β2-AR stimulation protects the heart against stress-induced damage. However, there is evidence that β2-AR overstimulation can cause a negative inotropic effect. It remains unclear why β1-AR antagonists protect the heart against cardiac injury in TSM, but β1-AR antagonists do not demonstrate a significant clinical effect in patients with TS. Administration of isoproterenol and immobilization stress can be used for TSM, because both impacts induce apical akinesia, but only immobilization causes apical ballooning. There is indirect evidence on the involvement of progesterone in cardiac injury in TSM.
Stone Heart Syndrome After Aortic Valve Replacement for Severe Aortic Stenosis: A Case Report.
Stone heart syndrome (SHS) is a rare but catastrophic complication of cardiac surgery, characterized by irreversible ischemic myocardial contracture following prolonged global myocardial ischemia, and is almost uniformly fatal once established. We report the case of a 55-year-old woman with severe symptomatic aortic stenosis who underwent elective mechanical aortic valve replacement. Preoperative echocardiography showed preserved ventricular dimensions with low-normal systolic function. Due to technical difficulties during mini-sternotomy, a prolonged aortic cross-clamp time was required with repeated cardioplegia. Failure to wean from cardiopulmonary bypass was followed by complete left ventricular akinesia, immobile left-sided valves, and minimal right ventricular activity despite maximal support. Full sternotomy revealed a rigid, non-compliant myocardium consistent with SHS. Central veno-arterial extracorporeal membrane oxygenation was instituted without myocardial recovery. The patient died from multiorgan failure on postoperative day three. SHS results from profound myocardial ischemia, causing adenosine triphosphate depletion, calcium overload, and irreversible actin-myosin binding. Prevention, achieved through meticulous myocardial protection and strict minimization of ischemic time, remains the only effective strategy against this devastating and irreversible complication of cardiac surgery.
Failure of Direct Oral Anticoagulation in Preventing Left Ventricular Thrombus Progression After Myocardial Infarction: A Case Report.
Background and Clinical Significance: Left ventricular thrombus formation after acute coronary syndrome represents a severe complication. Comprehensive echocardiographic assessment of the entire ventricle is essential, as regional wall motion abnormalities predispose to thrombus development. Although vitamin K antagonists have traditionally been the cornerstone of therapy, the convenience of direct oral anticoagulants has made them increasingly popular. However, the paucity of prospective data raises concerns regarding their general interchangeability. Case Presentation: We present a case of a basal left ventricular thrombus that rapidly progressed in size despite triple antithrombotic therapy including Apixaban. Conclusions: Following ACS, regional LV dysfunction predisposes to LVT formation-even in patients with only mild to moderate systolic impairment or non-apical akinesia. Although rare, LVT may also develop in basal and mid-ventricular segments. Anticoagulant selection should remain individualized, and short-term follow-up imaging is necessary to monitor therapeutic response.
Characteristics of Swallowing Function in People with Parkinson's Disease: A Scoping Review.
Most individuals with Parkinson's disease (PD) develop dysphagia during the course of their disease. It is crucial to comprehensively understand swallowing characteristics specific to PD for effective treatment. To systematically analyze and synthesize swallowing characteristics in people with PD compared with healthy controls and to summarize the assessment methods used. This scoping review was conducted in accordance with the Joanna Briggs Institute's (JBI) methodology. Systematic searches were conducted across six databases and one clinical trial registry. Original research articles reporting swallowing characteristics in cohorts comprising at least three individuals with PD were included. Studies published in English or German from the inception of the databases up to February 2024 were considered for inclusion. Independent reviewers assessed articles for eligibility and extracted relevant data. The scoping review protocol was registered and published (Open Science Framework, https://osf.io/8b3hm). Swallowing characteristics and assessment methods were systematically categorized. Significant characteristics, consistent across at least two studies, were included in the final analysis. Analysis included 46 studies with 1797 PD participants aged 35-85 years. Nineteen distinct oropharyngeal swallowing characteristics in individuals with PD were identified. Instrumental assessments (39/46, 85%), clinical assessments (10/46, 22%), and patient-related outcome measures (PROMs) (7/46, 15%) were used. Relevant swallowing abnormalities in PD can largely be interpreted as manifestations of bradykinesia, hypokinesia, and akinesia, supporting the view that dysphagia in PD constitutes a complex motor syndrome. Future research should aim to better characterize the manifestations within this syndrome and elucidate its underlying pathology. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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Takotsubo Syndrome Following Inhalation of K4: A Case Report.
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American journal of medical genetics. Part AVariants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.
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Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical SocietyWernicke's Encephalopathy and Serotonin Syndrome: A Case Report of Overlapping Pathologies.
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International journal of molecular sciencesWhat's behind your eosinophilic myocarditis? A case of Churg-Strauss syndrome diagnosed during acute heart failure.
ESC heart failure[Anaesthesia and Perioperative Management for Patients with Parkinson's Disease].
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Journal of the Academy of Consultation-Liaison PsychiatryManagement of Sleep Disturbances in Parkinson's Disease.
Journal of Parkinson's diseaseClinical Spectrum of Tauopathies.
Frontiers in neurologyLethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.
Journal of clinical medicineInverted Takotsubo Following a Ruptured Ectopic Pregnancy, Treated with Levosimendan.
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American journal of medical genetics. Part ACase Report: Acute Heart Failure Induced by the Combination of Takayasu's, Takotsubo and Coronary Vasospasm in an Elementary School Teacher-A Reaction to Return-to-Work Stress After COVID-19?
Frontiers in psychiatryA single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Prenatal diagnosisComplete Heart Block Causing Takotsubo Syndrome: A Case Report.
CureusBi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.
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American journal of medical genetics. Part ACongenital Dislocation of the Knee: Idiopathic or Arthrogryposis?
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International journal of molecular sciencesLethal Restrictive Dermopathy with ZMPSTE24 Mutation.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society[Hallucinations in Patients with Idiopathic Parkinson's Disease].
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Fetal diagnosis and therapyAcupuncture-Induced Tension Pneumothorax Presenting as Acute Heart Failure.
Case reports in cardiologyFetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review.
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BMC infectious diseasesPallidal degenerations and related disorders: an update.
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Journal of medical casesThe Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.
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Frontiers in medicineFetal akinesia: The application of clinical exome sequencing in cases with decreased fetal movement.
European journal of obstetrics, gynecology, and reproductive biologyCase Report: Takotsubo Syndrome Associated With Novel Coronavirus Disease 2019.
Frontiers in cardiovascular medicineDeformations associated with arthrogryposis.
American journal of medical genetics. Part ADeciphering the saccade velocity profile of progressive supranuclear palsy: A sign of latent cerebellar/brainstem dysfunction?
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyDynamic left ventricular outflow tract obstruction in a patient with acute coronary syndrome and without the apical akinesia: Potential alternative mechanisms causing a dynamic left ventricular outflow tract obstruction other than a compensatory basal hyperkinesis.
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European heart journal. Case reportsRecurrent Takotsubo cardiomyopathy triggered by emotionally stressful events: A case report.
World journal of clinical casesPostoperative supplementary motor area syndrome: clinical evolution and prognosis in nine patients after left hemispheric tumor resection.
HippokratiaA case of pulseless electrical activity due to takotsubo syndrome following radiofrequency catheter ablation for atrial fibrillation.
Journal of cardiology casesCHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.
American journal of medical genetics. Part ACOFS type 3 in an Indian family with antenatally detected arthrogryposis.
American journal of medical genetics. Part ACannabis in Parkinson's Disease: The Patients' View.
Journal of Parkinson's diseaseCase report: spontaneous coronary artery dissection and suspicion of takotsubo cardiomyopathy in a patient presenting with T-wave inversions, severe QTc prolongation, elevated cardiac biomarkers, and apical akinesia.
European heart journal. Case reportsCentrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts.
Scientific reportsA man in his fifties with increasing motor fluctuations, sleep impairment and altered mental status.
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekkeNeurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Journal of medical geneticsTakotsubo Syndrome in Patients with COVID-19: a Systematic Review of Published Cases.
SN comprehensive clinical medicineA new phenotype of choreic syndrome associating severe freezing of gait and chorea.
Clinical case reportsBasal Takotsubo syndrome with transient severe mitral regurgitation caused by drug use: a case report.
European heart journal. Case reportsReverse takotsubo cardiomyopathy in fulminant COVID-19 associated with cytokine release syndrome and resolution following therapeutic plasma exchange: a case-report.
BMC cardiovascular disordersThe latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.
American journal of medical genetics. Part AGenetic diagnosis and clinical evaluation of severe fetal akinesia syndrome.
Prenatal diagnosisThe importance of heart rate in isoprenaline-induced takotsubo-like cardiac dysfunction in rats.
ESC heart failureTakotsubo Cardiomyopathy in an Alzheimer Disease Patient: The Potential Contribution of Antidepressant Agents.
Alzheimer disease and associated disordersRecurrent takotsubo syndrome with worsening of left ventricular outflow obstruction during haemodialysis: a case report.
European heart journal. Case reportsProgressive Supranuclear Palsy-Parkinsonism Predominant (PSP-P)-A Clinical Challenge at the Boundaries of PSP and Parkinson's Disease (PD).
Frontiers in neurology[Psychomotor disadaptation syndrome].
Revue medicale de LiegeMortal consequences of a cooperative action between Takotsubo syndrome and increased intracranial pressure.
ESC heart failureSingle-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia.
Cell calciumBiallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.
American journal of medical genetics. Part APrenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association.
Journal of clinical ultrasound : JCUA rare case of takotsubo syndrome within the first day after heart transplantation.
Monaldi archives for chest disease = Archivio Monaldi per le malattie del toraceAn Emerging Cardiovascular Disease: Takotsubo Syndrome.
BioMed research internationalProgressive supranuclear palsy.
International review of neurobiologyCompound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report.
World journal of clinical casesDiagnostic accuracy of MRI parameters in pure akinesia with gait freezing.
Journal of neurologyNull variants in AGRN cause lethal fetal akinesia deformation sequence.
Clinical geneticsPostoperative isolated lower extremity supplementary motor area syndrome: case report and review of the literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryExome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome.
Case reports in obstetrics and gynecology[Progressive supranuclear palsy-Richardson syndrome with visual attention disturbance (Holmes and Horrax) and ataxie optique (Garcin): a case report].
Rinsho shinkeigaku = Clinical neurologyDiagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyAn Evaluation of the Progressive Supranuclear Palsy Speech/Language Variant.
Movement disorders clinical practiceAre PSP patients included in clinical trials representative of the general PSP population?
Parkinsonism & related disordersThe novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome.
Human mutationFetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.
Prenatal diagnosisDeleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Human mutationSevere biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.
Experimental neurologySLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
American journal of medical genetics. Part AOmalizumab induced Takotsubo syndrome: case report.
European heart journal. Case reportsTakotsubo cardiomyopathy and coronary artery disease: value of cardiac magnetic resonance imaging for diagnostic confirmation: a case report.
European heart journal. Case reportsUnraveling corticobasal syndrome and alien limb syndrome with structural brain imaging.
Cortex; a journal devoted to the study of the nervous system and behaviorIsolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.
American journal of medical genetics. Part ASelf-reported urinary impairment identifies 'fast progressors' in terms of neuronal loss in multiple system atrophy.
Autonomic neuroscience : basic & clinicalBiallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
European journal of medical geneticsRegional Anesthesia for Pediatric Ophthalmic Surgery: A Review of the Literature.
Anesthesia and analgesiaHomozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.
American journal of medical genetics. Part AEffects of pretreatment with cardiostimulants and beta-blockers on isoprenaline-induced takotsubo-like cardiac dysfunction in rats.
International journal of cardiologyModulation of specific components of sleep disturbances by simultaneous subthalamic and nigral stimulation in Parkinson's disease.
Parkinsonism & related disordersFetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.
Prenatal diagnosisAnesthesia for patient with anti-N-methyl-D-aspartate receptor encephalitis: A case report with a brief review of the literature.
MedicineNMDAR encephalitis presenting as akinesia in a patient with Parkinson disease.
Journal of neuroimmunologyHypertrophic cardiomyopathy with dynamic obstruction and high left ventricular outflow gradients associated with paradoxical apical ballooning.
Echocardiography (Mount Kisco, N.Y.)Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
PLoS geneticsPena-Shokeir syndrome: current management strategies and palliative care.
The application of clinical geneticsHeterogeneity of clinical presentation in Tako-Tsubo syndromes: the prevalence of normal segmental wall motion and normal ECG pattern.
Journal of cardiovascular medicine (Hagerstown, Md.)Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.
Clinical dysmorphologyMolecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Genetics in medicine : official journal of the American College of Medical GeneticsMutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
American journal of human geneticsThe role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.
American journal of medical genetics. Part ACompound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia.
European journal of obstetrics, gynecology, and reproductive biologyThe Hamburg Parkinson day-clinic: a new treatment concept at the border of in- and outpatient care.
Journal of neural transmission (Vienna, Austria : 1996)Nutritional ketosis delays the onset of isoflurane induced anesthesia.
BMC anesthesiologyGenetics of neuromuscular fetal akinesia in the genomics era.
Journal of medical geneticsProspective Characterization of Cognitive Function in Typical and 'Brainstem Predominant'Progressive Supranuclear Palsy Phenotypes.
Journal of movement disordersAltered myocardial characteristics of the preexcited segment in Wolff-Parkinson-White syndrome: A pilot study with cardiac magnetic resonance imaging.
PloS oneTakotsubo Cardiomyopathy Mimicking Stent Thrombosis After Percutaneous Coronary Intervention.
Journal of investigative medicine high impact case reportsTakotsubo Cardiomyopathy Developed After Two-stage Surgery for Double Primary Lung Cancer.
Anticancer researchFowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.
Pediatric radiologyThe crossed frontal aslant tract: A possible pathway involved in the recovery of supplementary motor area syndrome.
Brain and behaviorAssociações
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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.
- Takotsubo Syndrome Following Inhalation of K4: A Case Report.
- The role of adrenergic receptors and sex steroid hormones in takotsubo syndrome.
- Stone Heart Syndrome After Aortic Valve Replacement for Severe Aortic Stenosis: A Case Report.
- Failure of Direct Oral Anticoagulation in Preventing Left Ventricular Thrombus Progression After Myocardial Infarction: A Case Report.
- Characteristics of Swallowing Function in People with Parkinson's Disease: A Scoping Review.Movement disorders : official journal of the Movement Disorder Society· 2026· PMID 41508417mais citado
- Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.
- Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2547(Orphanet)
- MONDO:0043143(MONDO)
- GARD:3650(GARD (NIH))
- Busca completa no PubMed(PubMed)
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