Rett syndrome: clinical correlates of the newly discovered gene.

Abstract excerpt

The recent identification of mutations in the gene, MECP2, in girls with Rett syndrome (RS) firmly establishes the molecular genetic basis of this X-linked dominant disorder. This discovery, with ramifications far beyond establishing the gene for RS, represents a dramatic conclusion to an intensive, decade-long search. MECP2 encodes a methyl-CpG-binding protein (MeCP2) involved in transcriptional silencing of a...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Central Nervous System
• Share to Chromosomal Proteins, Non-Histone
• Share to DNA-Binding Proteins