Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

BACKGROUND: Congenital hydrocephalus is characterized by ventriculomegaly, defined as a dilatation of cerebral ventricles, and thought to be due to impaired cerebrospinal fluid (CSF) homeostasis. Primary congenital hydrocephalus is a subset of cases with prenatal onset and absence of another primary...

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Detalles Bibliográficos
Autores principales: Jacquemin, Valerie, Versbraegen, Nassim, Duerinckx, Sarah, Massart, Annick, Soblet, Julie, Perazzolo, Camille, Deconinck, Nicolas, Brischoux-Boucher, Elise, De Leener, Anne, Revencu, Nicole, Janssens, Sandra, Moorgat, Stèphanie, Blaumeiser, Bettina, Avela, Kristiina, Touraine, Renaud, Abou Jaoude, Imad, Keymolen, Kathelijn, Saugier-Veber, Pascale, Lenaerts, Tom, Abramowicz, Marc, Pirson, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9979489/
https://www.ncbi.nlm.nih.gov/pubmed/36859317
http://dx.doi.org/10.1186/s40246-023-00464-w

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