MECP2 Mutations and Rett Syndrome Phenotypes

Abstract

Seventy-one sporadic and 7 familial Rett syndrome (RTT) patients were screened for MECP2 mutations by direct sequencing and the pattern of X chromosome inactivation (XCI) was determined in 39 RTT patients at the Baylor College of Medicine, Houston, TX.

Keywords

• rett syndrome
• milder phenotypes
• x chromosome inactivation