Article
Mutation in MPDZ causes severe congenital hydrocephalus.
Journal of medical genetics - 1 Jan 2013
Al-Dosari Mohammed S, Al-Owain Mohammed, Tulbah Maha, Kurdi Wesam, Adly Nouran, Al-Hemidan Amal, Masoodi Tariq A, Albash Buthainah, Alkuraya Fowzan S
Abstract excerpt
BACKGROUND: Congenital hydrocephalus is an important birth defect that is heterogeneous in aetiology and clinical presentation. Although genetics is believed to play an important role in the aetiology of non-syndromic congenital hydrocephalus, the overwhelming majority of cases lack mutations in L1CAM, the only disease gene identified to date. The purpose of this study is to identify a novel genetic cause of...
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