Article
Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.
Mental retardation and developmental disabilities research reviews - 1 Jan 2002
Hoffbuhr K C, Moses L M, Jerdonek M A, Naidu S, Hoffman E P
Abstract excerpt
Rett syndrome is a neurodevelopmental disorder of early postnatal brain growth in girls. Patients show a normal neonatal period with subsequent developmental regression and a loss of acquired skills (communication and motor skills), deceleration of head growth, and development of typical hand stereotypies. Recent studies have shown that mutations in the X-linked methyl CpG binding protein 2 gene (MeCP2) cause...
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