Article
De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
American journal of medical genetics. Part A - 1 Jul 2015
Hara Munetsugu, Ohba Chihiro, Yamashita Yushiro, Saitsu Hirotomo, Matsumoto Naomichi, Matsuishi Toyojiro
Abstract excerpt
Rett syndrome (RTT) is a neurodevelopmental disorder predominantly affecting females. Females with the MECP2 mutations exhibit a broad spectrum of clinical manifestations ranging from classical Rett syndrome to asymptomatic carriers. Mutations of genes encoding cyclin-dependent kinase-like 5 (CDKL5) and forkhead box G1 (FOXG1) are also found in early onset RTT variants. Here, we present the first report of a...
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