Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

Abstract 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...

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Principais autores:	Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson
格式:	Artigo
語言:	Inglês
出版:	BMC 2023-03-01
叢編:	Human Genomics
主題:	Congenital hydrocephalus Oligogenic inheritance Exome sequencing Mutation burden test Cilia
在線閱讀:	https://doi.org/10.1186/s40246-023-00464-w
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