Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

Abstract excerpt

Mutations in the MECP2 gene cause the severe neurodevelopmental disorder called Rett syndrome. Preliminary evidence suggests that MECP2 may be involved in a broader phenotype than classical Rett syndrome including preserved speech variants (PSV). Here we report clinical and mutation analysis of 18 PSV patients. Ten of them had a MECP2 mutation (55%). The clinical features of these girls have been characterized...

Topics

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

• Share to Chromosomal Proteins, Non-Histone
• Share to DNA-Binding Proteins