Article
RettBASE: Rett syndrome database update.
Human mutation - 1 Aug 2017
Krishnaraj Rahul, Ho Gladys, Christodoulou John
Abstract excerpt
Rett syndrome (RTT) is an X-linked progressive neurodevelopmental disorder that primarily affects females. Mutations in the MECP2 gene have been attributed as the major genetic cause of RTT. Recently, mutations in CDKL5 and FOXG1 genes have also been suggested to give rise to RTT, although subsequent more extensive studies suggest that diseases resulting from mutations in these two genes should be considered as...
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