Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla

Congenital hydrocephalus is a common condition caused by the accumulation of cerebrospinal fluid in the ventricular system. Four major genes are currently known to be causally involved in hydrocephalus, either isolated or as a common clinical feature: L1CAM, AP1S2, MPDZ and CCDC88C. Here, we report...

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Detalles Bibliográficos
Autores principales: Tessier, Aude, Roux, Nathalie, Boutaud, Lucile, Lunel, Elodie, Hakkakian, Leila, Parisot, Mélanie, Garfa-Traoré, Meriem, Ichkou, Amale, Elkhartoufi, Nadia, Bole, Christine, Nitschke, Patrick, Amiel, Jeanne, Martinovic, Jelena, Encha-Razavi, Férechté, Attié-Bitach, Tania, Thomas, Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9940441/
https://www.ncbi.nlm.nih.gov/pubmed/36803301
http://dx.doi.org/10.1186/s40478-023-01519-8

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