Article
The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome.
Mental retardation and developmental disabilities research reviews - 1 Jan 2002
Hammer Sara, Dorrani Naghmeh, Dragich Joanna, Kudo Shinichi, Schanen Carolyn
Abstract excerpt
Although MECP2 was initially identified as the causative gene in classic Rett syndrome (RTT), the gene has now been implicated in several phenotypes that extend well beyond the clinically defined disorder. MECP2 mutations have been found in people with various disorders, including neonatal onset encephalopathy, X-linked recessive mental retardation (MRX), classic and atypical RTT, autism, and Angelman syndrome,...
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