João Lobo Antunes GCSE • GCIH • GCL foi um neurocirurgião português.
Introdução
O que você precisa saber de cara
Astroblastoma é um tumor cerebral raro, primário do sistema nervoso central, que se origina de células precursoras de astrócitos. Geralmente ocorre em crianças e adultos jovens, apresentando-se com sintomas neurológicos inespecíficos.
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
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
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 — Astroblastoma
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Ensaios clínicos abertos e novidades científicas recentes
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Outros ensaios clínicos
Publicações mais relevantes
BEND2 Immunohistochemistry as a Useful Diagnostic Marker for Astroblastomas With BEND2 Fusion.
Astroblastoma, MN1-altered, is a newly recognized entity in the 5th edition of the WHO Classification of CNS Tumors. Its genetic definition is the presence of an alteration, most commonly gene fusions, in the MN1 gene, with BEND2 being the most frequent fusion partner. However, some astroblastomas and astroblastoma-like tumors with fusion of non-MN1 to BEND2 have been reported recently. These tumors exhibit epigenetic profiles similar to those of astroblastomas with MN1::BEND2, suggesting that BEND2 may play a more important role than MN1 in tumorigenesis. Therefore, investigation of BEND2 fusion will be essential to make an accurate diagnosis of astroblastomas in the near future. In this study, we aimed to explore the diagnostic utility of BEND2 immunohistochemistry using a commercially available rabbit polyclonal antibody. As a result, nuclear expression of BEND2 was observed in all 15 cases of astroblastomas with BEND2 fusion (9 with MN1::BEND2, 4 with EWSR1::BEND2, 1 with MAMLD1::BEND2, and 1 with TCF3::BEND2), whereas it was not found in 147 cases of other CNS tumors from 48 different entities. In contrast, negative nuclear staining for BEND2 was observed in a previously reported case of spindle cell sarcoma with MN1::BEND2, whose fusion junction differed from those of the astroblastomas analyzed in this study. In conclusion, we demonstrated that BEND2 immunohistochemistry has extremely high sensitivity and specificity, suggesting its utility as a reliable marker for the diagnosis of astroblastoma with BEND2 fusion.
Born of rosettes, fueled by fusion - Astroblastoma blasts off.
Diagnostic pitfall: BCOR immunoreactivity in a molecularly confirmed astroblastoma, MN1-altered (HGNET-MN1).
A Case of Spinal Astroblastoma-Like Neuroepithelial Tumor With MAMLD1::BEND2 Fusion.
Corrigendum: Clinicopathological and molecular characterization of astroblastoma.
[This corrects the article DOI: 10.3389/fnmol.2025.1483833.].
Publicações recentes
Role of Surrogate Immunohistochemistry Markers in CNS Tumors in the Era of Molecular Diagnostics With Recent Updates.
BEND2 Immunohistochemistry as a Useful Diagnostic Marker for Astroblastomas With BEND2 Fusion.
Born of rosettes, fueled by fusion - Astroblastoma blasts off.
Diagnostic pitfall: BCOR immunoreactivity in a molecularly confirmed astroblastoma, MN1-altered (HGNET-MN1).
A Case of Spinal Astroblastoma-Like Neuroepithelial Tumor With MAMLD1::BEND2 Fusion.
📚 EuropePMC180 artigos no totalmostrando 133
BEND2 Immunohistochemistry as a Useful Diagnostic Marker for Astroblastomas With BEND2 Fusion.
The American journal of surgical pathologyBorn of rosettes, fueled by fusion - Astroblastoma blasts off.
Neuro-oncologyDiagnostic pitfall: BCOR immunoreactivity in a molecularly confirmed astroblastoma, MN1-altered (HGNET-MN1).
Clinical neuropathologyA Case of Spinal Astroblastoma-Like Neuroepithelial Tumor With MAMLD1::BEND2 Fusion.
Pathology internationalMolecular and Clinical Stratification of Astroblastomas: Three distinct Fusion-Defined Groups Informing Risk-Adapted Treatment Strategies.
Neuro-oncologyHigh-grade astroblastoma initially misdiagnosed as papillary meningioma: a case report.
The Pan African medical journalCase Report: Multimodal management of a rare pediatric astroblastoma using proton beam therapy and Gamma Knife radiosurgery-a case report and literature review.
Frontiers in oncologyCorrigendum: Clinicopathological and molecular characterization of astroblastoma.
Frontiers in molecular neuroscienceSoft tissue sarcoma with MN1 gene fusions: a report of three cases with aggressive clinical behavior.
The Journal of pathologyLow-Grade Primary Intramedullary Spinal Cord Astroblastoma: A Case Report and Literature Review.
Neuropathology : official journal of the Japanese Society of NeuropathologyPrimary spinal cord astroblastoma: a case report and systematic review of the literature detailing management and understanding histopathological, epigenetic, and molecular analysis.
Journal of neurosurgery. PediatricsAstroblastoma With MN1::BEND2 Fusion Showing an Atypical Signal Pattern in MN1 Break-Apart FISH: A Potential Diagnostic Pitfall.
Neuropathology : official journal of the Japanese Society of NeuropathologyOncogenic fusions converge on shared mechanisms in initiating astroblastoma.
NatureExpanding clinicopathologic knowledge in high-grade glioma with pleomorphic and pseudopapillary features (HPAP): a report of two cases.
Acta neuropathologica communicationsLong-Term Outcomes of Radiation Therapy for Pediatric Brain Tumors: A Single-Center Study.
CureusEWSR1::BEND2 fusion sarcoma in bone: a report of two rare cases.
Virchows Archiv : an international journal of pathologyClinicopathological and molecular characterization of astrocytoma.
Frontiers in molecular neurosciencePosterior fossa astroblastoma: a case report of an extremely rare tumor with challenging diagnosis in a child and a review of literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryMicroRNAs Expression Profile in MN1-Altered Astroblastoma.
BiomedicinesA novel FUS::BEND2 fusion expanding the molecular spectrum of astroblastomas.
Free neuropathologyHemorrhagic astroblastoma: atypical presentation of a rare tumor. Illustrative case.
Journal of neurosurgery. Case lessonsMN1 immunohistochemistry is a sensitive diagnostic biomarker for primitive CNS tumors with MN1 fusion.
Acta neuropathologicaThe Imaging Appearance of EWSR1::PATZ1 Gene Fusion Central Nervous System Tumors.
Journal of the Belgian Society of RadiologyA primary intracranial neuroepithelial neoplasm with novel TCF3::BEND2 fusion: a case report.
Acta neuropathologica communicationsTCF3::BEND2 in paediatric supratentorial tumour with carcinoma-like epithelial features classifying as MN1-altered astroblastoma by DNA methylation profiling.
Neuropathology and applied neurobiologyLong-Term Follow-Up of a Child with EWSR1-BEND2 Fused Spinal Astroblastoma.
Pediatric neurosurgeryAstroblastoma: A molecularly defined entity, its clinico-radiological & pathological analysis of eight cases and review of literature.
Pathology, research and practiceAstroblastoma with MN1::BEND2 in an elderly patient: A case report and review of the literature.
Brain tumor pathologyLack of classical astroblastoma features in pediatric MN1::BEND2-fused brain tumors.
Brain pathology (Zurich, Switzerland)Spinal Cord Astroblastoma With EWSR1-BEND2 Fusion in Female Patients : A Report of Four Cases From China and a Comprehensive Literature Review.
The American journal of surgical pathologySupra-tentorial Ependymomas with ZFTA Fusion, YAP1 Fusion, and Astroblastomas, MN1-altered: Characteristic Imaging Features.
Clinical neuroradiologyAstroblastoma With a Novel YAP1::BEND2 Fusion: A Case Report.
Journal of pediatric hematology/oncologyExcessively Delayed Radiation Changes After Proton Beam Therapy for Brain Tumors: Report of Two Cases.
Brain tumor research and treatmentNavigating the Diagnosis and Treatment of Astroblastoma: A Pediatric Case Report.
CureusNext-generation sequencing for pediatric CNS tumors: does it add value in a middle-income country setup?
Frontiers in oncologySpinal astroblastoma, MN1 altered in 3-year-old child: An uncommon tumor at an unusual site.
Neuropathology : official journal of the Japanese Society of NeuropathologyIdentification of Novel/Rare EWSR1 Fusion Partners in Undifferentiated Mesenchymal Neoplasms.
International journal of molecular sciencesA case of disseminated spinal astroblastoma harboring a MAMLD1::BEND2 fusion.
Neuropathology : official journal of the Japanese Society of NeuropathologyCircadian gene Per3 promotes astroblastoma progression through the P53/BCL2/BAX signalling pathway.
GeneAwake resection of recurrent astroblastoma with intraoperative 5-ALA-induced fluorescence: illustrative case.
Journal of neurosurgery. Case lessons[Circumscribed Astrocytic Gliomas].
No shinkei geka. Neurological surgeryCytological features of diffuse and circumscribed gliomas.
Cytopathology : official journal of the British Society for Clinical CytologyAdult Brainstem Astroblastoma: Unusual Presentation of a Rare Tumor.
Asian journal of neurosurgeryA rare case of pediatric MN1-altered astroblastoma with concomitant ATM germline mutation.
Pediatric blood & cancerRadiology-Pathology and Surgical Correlation in Astroblastoma.
AJNR. American journal of neuroradiologyHeterogeneous clinicopathological findings and patient-reported outcomes in adults with MN1-altered CNS tumors: A case report and systematic literature review.
Frontiers in oncologyMN1 altered astroblastoma with APC and LRP1B gene mutations: a unique variant in the cervical spine of a pediatric patient.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA Low-grade Sinonasal Sarcoma Harboring EWSR1::BEND2: Expanding the Differential Diagnosis of Sinonasal Spindle Cell Neoplasms.
Head and neck pathologyAn EWSR1-EZHIP fusion in a cerebral hemisphere astroblastoma.
Neuropathology : official journal of the Japanese Society of NeuropathologyEarly ependymal tumor with MN1-BEND2 fusion: a mostly cerebral tumor of female children with a good prognosis that is distinct from classical astroblastoma.
Journal of neuro-oncologyThe spectrum of morphological findings in pediatric central nervous system MN1-fusion-positive neuroepithelial tumors.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryRecurrent high-grade astroblastoma with MN1-BEND2 fusion in spinal cord and literature review.
Clinical neuropathologyUpregulation of miRNA-26a Enhances the Apoptosis of Cerebral Neurons by Targeting EphA2 and Inhibiting the MAPK Pathway.
Developmental neuroscienceThirteen-year long-term follow-up in a rare case of anaplastic astroblastoma: What makes the difference?
Surgical neurology internationalCircumscribed astrocytic gliomas: Contribution of molecular analyses to histopathology diagnosis in the WHO CNS5 classification.
Indian journal of pathology & microbiologyRecurrent HGNET-MN1 altered (astroblastoma MN1-altered) of the foramen magnum: Case report and molecular classification.
Surgical neurology internationalCerebral astroblastoma radiologically mimicking pilocytic astrocytoma: A case report.
Clinical case reports[Astroblastoma with Rapid Cyst Expansion and Hemorrhage in an Adult: A Case Report].
Brain and nerve = Shinkei kenkyu no shinpoUpfront molecular targeted therapy for the treatment of BRAF-mutant pediatric high-grade glioma.
Neuro-oncologyPaediatric astroblastoma-like neuroepithelial tumour of the spinal cord with a MAMLD1-BEND2 rearrangement.
Neuropathology and applied neurobiologyThe Diagnostic Value of Pan-Trk Expression to Detect Neurotrophic Tyrosine Receptor Kinase (NTRK) Gene Fusion in CNS Tumours: A Study Using Next-Generation Sequencing Platform.
Pathology oncology research : PORClinicoradiological and histopathological characteristics and treatment outcomes of cerebral astroblastoma in children: a single-institution experience.
Journal of neurosurgery. PediatricsSpinal astroblastoma: a rare tumour in an unusual location.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA novel LARGE1-AFF2 fusion expanding the molecular alterations associated with the methylation class of neuroepithelial tumors with PATZ1 fusions.
Acta neuropathologica communicationsHigh-grade glioma with pleomorphic and pseudopapillary features (HPAP): a proposed type of circumscribed glioma in adults harboring frequent TP53 mutations and recurrent monosomy 13.
Acta neuropathologicaSoft-tissue sarcoma with MN1-BEND2 fusion: A case report and comparison with astroblastoma.
Genes, chromosomes & cancerEWSR1-BEND2 fusion defines an epigenetically distinct subtype of astroblastoma.
Acta neuropathologicaNeuroimaging of astroblastomas: A case series and systematic review.
Journal of neuroimaging : official journal of the American Society of NeuroimagingPrevalence of BRAFV600 in glioma and use of BRAF Inhibitors in patients with BRAFV600 mutation-positive glioma: systematic review.
Neuro-oncologyCerebral astroblastoma with oligodendroglial-like cells: A case report.
MedicineHigh-Grade Intraventricular Astroblastoma in a Young Adult: A Rare and Controversial Tumor to Manage.
Asian journal of neurosurgeryIntraoperative high-field resonance: How to optimize its use in our healthcare system.
NeurocirugiaMolecular profiling of pediatric and adolescent ependymomas: identification of genetic variants using a next-generation sequencing panel.
Journal of neuro-oncologyCerebral Astroblastoma: A Rare Tumor.
CureusSupratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions.
Acta neuropathologica communicationsSpinal cord astroblastoma with EWSR1-BEND2 fusion classified as HGNET-MN1 by methylation classification: a case report.
Brain tumor pathologyA pediatric cerebral tumor with MN1 alteration and pathological features mimicking carcinoma metastasis: may the terminology "high grade neuroepithelial tumor with MN1 alteration" still be relevant?
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA Rare Case of a High-Grade Astroblastoma with 5-Year Follow-up.
Asian journal of neurosurgeryMolecular clarification of brainstem astroblastoma with EWSR1-BEND2 fusion in a 38-year-old man.
Free neuropathologyUnique pathological findings of astroblastoma with MN1 alteration in a patient with late recurrence.
Brain tumor pathologyA rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management.
Neuropathology and applied neurobiologySupratentorial ependymoma in childhood: more than just RELA or YAP.
Acta neuropathologicaWell-differentiated Astroblastoma with Both Focal Anaplastic Features and a Meningioma 1 Gene Alteration.
NMC case report journalTreatment response of CNS high-grade neuroepithelial tumors with MN1 alteration.
Pediatric blood & cancerCentral nervous system neuroepithelial tumors with MN1-alteration: an individual patient data meta-analysis of 73 cases.
Brain tumor pathologyCerebral hemispheric glioblastoma with PNET-like morphology and histone H3.3 G34 mutation in younger patients: Report of three rare cases and diagnostic pitfalls.
Indian journal of pathology & microbiology[Recurrent High-grade Astroblastoma Treated with Stereotactic Radiotherapy:A Case Report].
No shinkei geka. Neurological surgeryEarly versus delayed postoperative radiotherapy for treatment of low-grade gliomas.
The Cochrane database of systematic reviewsTemporal lobe angiocentric glioma with oligodendroglioma-like areas: a rare association of an uncommon tumor. A case report with review of literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySpinal cord astroblastoma with an EWSR1-BEND2 fusion classified as a high-grade neuroepithelial tumour with MN1 alteration.
Neuropathology and applied neurobiologyPediatric methylation class HGNET-MN1: unresolved issues with terminology and grading.
Acta neuropathologica communicationsMolecular Profiling Reclassifies Adult Astroblastoma into Known and Clinically Distinct Tumor Entities with Frequent Mitogen-Activated Protein Kinase Pathway Alterations.
The oncologistExtra-axial anaplastic astroblastoma in a 67-year-old woman.
Neuropathology : official journal of the Japanese Society of NeuropathologyRole of DNA Methylation Profile in Diagnosing Astroblastoma: A Case Report and Literature Review.
Frontiers in geneticsMN1 rearrangement in astroblastoma: study of eight cases and review of literature.
Brain tumor pathologyGenomic analysis demonstrates that histologically-defined astroblastomas are molecularly heterogeneous and that tumors with MN1 rearrangement exhibit the most favorable prognosis.
Acta neuropathologica communicationsPosterior fossa astroblastoma in a child: a case report and a review of the literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA case report of high-grade astroblastoma in a young adult.
CNS oncologyRBM10 truncation in astroblastoma in a patient with history of mandibular ameloblastoma: A case report.
Cancer geneticsBRAF V600E-mutated central nervous system tumor with divergent morphological feature - Anaplastic pleomorphic xanthoastrocytoma-like and astroblastoma-like.
Neuropathology : official journal of the Japanese Society of Neuropathology[Astroblastoma: A rare glial tumor].
Annales de pathologieBrainstem astroblastoma with MN1 translocation.
Neuropathology : official journal of the Japanese Society of NeuropathologyCo-occurrence of astrocytoma and astroblastoma: Case report and literature review.
Neuropathology : official journal of the Japanese Society of NeuropathologyPatterns of care and treatment outcomes of patients with astroblastoma: a National Cancer Database analysis.
CNS oncologyAstroblastoma - a rare and challenging tumor: a case report and review of the literature.
Journal of medical case reportsPrimary spinal cord astroblastoma: case report.
Journal of neurosurgery. SpineThe ten-year evolutionary trajectory of a highly recurrent paediatric high grade neuroepithelial tumour with MN1:BEND2 fusion.
Scientific reportsThe use of 5-aminolevulinic acid to assist gross total resection of pediatric astroblastoma.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAstroblastoma - reviewing literature and one case report.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieAstroblastoma in a Young Female Patient: A Case Report and Literature Review of Clinicopathological, Radiological and Prognostic Characteristics and Current Treatment Strategies.
Brain tumor research and treatmentAstroblastoma: a distinct tumor entity characterized by alterations of the X chromosome and MN1 rearrangement.
Brain pathology (Zurich, Switzerland)Multimodal molecular analysis of astroblastoma enables reclassification of most cases into more specific molecular entities.
Brain pathology (Zurich, Switzerland)Some characteristics of gliomas managed at a Neurosurgery centre in Nigeria.
The Nigerian postgraduate medical journalPatterns of care and survival outcomes in patients with astroblastoma: an individual patient data analysis of 152 cases.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPrevalence and clinicopathological features of H3.3 G34-mutant high-grade gliomas: a retrospective study of 411 consecutive glioma cases in a single institution.
Brain tumor pathologyDevelopment of cystic malacia after high-dose cranial irradiation of pediatric CNS tumors in long-term follow-up.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA Pediatric Tumor Found Frequently in the Adult Population: A Case of Anaplastic Astroblastoma in an Elderly Patient and Review of the Literature.
Case reports in neurological medicineCharacterization of stem-like cells in a new astroblastoma cell line.
Experimental cell researchA case of astroblastoma: Radiological and histopathological characteristics and a review of current treatment options.
Surgical neurology internationalGenomic characterization of recurrent high-grade astroblastoma.
Cancer geneticsMorphological and molecular features of astroblastoma, including BRAFV600E mutations, suggest an ontological relationship to other cortical-based gliomas of children and young adults.
Neuro-oncologyNeuroradiologic characteristics of astroblastoma and systematic review of the literature: 2 new cases and 125 cases reported in 59 publications.
Pediatric radiologyAdult intraventricular astroblastoma.
Singapore medical journalA case of cerebral astroblastoma with rhabdoid features: a cytological, histological, and immunohistochemical study.
Brain tumor pathologyHemorrhage in astroblastoma: An unusual manifestation of an extremely rare entity.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaAstroblastoma of cerebrum: A rare case report and review of literature.
Journal of cancer research and therapeuticsIntraventricular Astroblastoma in an Infant: A Case Report and Review of the Literature.
Pediatric neurosurgeryDistant dissemination of mixed low-grade astroblastoma-arteriovenous malformation after initial operation: a case report.
International journal of clinical and experimental pathologyWell-differentiated and anaplastic astroblastoma in the same patient: a case report and review of the literature.
Clinical neuropathologyA Rare Malignant Fetal Brain Tumor.
Fetal diagnosis and therapyLack of IDH1 mutation in astroblastomas suggests putative origin from ependymoglial cells?
Neuropathology : official journal of the Japanese Society of NeuropathologyIntraventricular mass lesions at magnetic resonance imaging: iconographic essay - part 2.
Radiologia brasileiraAstroblastoma: beside being a tumor entity, an occasional phenotype of astrocytic gliomas?
OncoTargets and therapyAssociações
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Comunidades
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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.
- BEND2 Immunohistochemistry as a Useful Diagnostic Marker for Astroblastomas With BEND2 Fusion.
- Born of rosettes, fueled by fusion - Astroblastoma blasts off.
- Diagnostic pitfall: BCOR immunoreactivity in a molecularly confirmed astroblastoma, MN1-altered (HGNET-MN1).
- A Case of Spinal Astroblastoma-Like Neuroepithelial Tumor With MAMLD1::BEND2 Fusion.
- Corrigendum: Clinicopathological and molecular characterization of astroblastoma.
- Role of Surrogate Immunohistochemistry Markers in CNS Tumors in the Era of Molecular Diagnostics With Recent Updates.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:251679(Orphanet)
- MONDO:0016707(MONDO)
- GARD:10635(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q4811532(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
