Article
Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis.
Human molecular genetics - 1 Oct 2007
Alvarez-Saavedra Matías, Sáez Mauricio A, Kang Dongcheul, Zoghbi Huda Y, Young Juan I
Abstract excerpt
Rett syndrome (RTT), a leading cause of mental retardation with autistic features in females, is caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). RTT is characterized by a diverse set of neurological features that includes cognitive, motor, behavioral and autonomic disturbances. The diverse features suggest that specific neurons contribute to particular phenotypes and raise the...
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