COL4A1 mutation‐related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria

Fetal intracranial hemorrhage represents a rare event with an estimated prevalence of 1:10 000 pregnancies. We report a patient diagnosed prenatally with intracranial hemorrhage and ventriculomegaly carrying a novel, previously unreported, likely pathogenic variant in COL4A1. At the gestational age...

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Detalles Bibliográficos
Autores principales: Straka, Barbora, Vlčková, Markéta, Libá, Zuzana, Heřmanovská, Barbora, Kynčl, Martin, Dorňáková, Jana, Táborský, Jakub, Kršek, Pavel, Musilová, Alena, Janota, Jan, Balaščaková, Miroslava
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Short Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9977753/
https://www.ncbi.nlm.nih.gov/pubmed/36504316
http://dx.doi.org/10.1002/epi4.12681

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9977753/
https://www.ncbi.nlm.nih.gov/pubmed/36504316
http://dx.doi.org/10.1002/epi4.12681

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