Article
The genetic landscape of familial congenital hydrocephalus.
Annals of neurology - 1 Jun 2017
Shaheen Ranad, Sebai Mohammed Adeeb, Patel Nisha, Ewida Nour, Kurdi Wesam, Altweijri Ikhlass, Sogaty Sameera, Almardawi Elham, Seidahmed Mohammed Zain, Alnemri Abdulrahman, Madirevula Sateesh, Ibrahim Niema, Abdulwahab Firdous, Hashem Mais, Al-Sheddi Tarfa, Alomar Rana, Alobeid Eman, Sallout Bahauddin, AlBaqawi Badi, AlAali Wajeih, Ajaji Nouf, Lesmana Harry, Hopkin Robert J, Dupuis Lucie, Mendoza-Londono Roberto, Al Rukban Hadeel, Yoon Grace, Faqeih Eissa, Alkuraya Fowzan S
Abstract excerpt
OBJECTIVE: Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital...
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