Article
Investigating genotype-phenotype relationships in Rett syndrome using an international data set.
Neurology - 11 Mar 2008
Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann W E, Leonard H
Abstract excerpt
BACKGROUND: Rett syndrome is an uncommon neurodevelopmental disorder with an incidence of 1:9,000 live female births. The principal genetic cause was first reported in 1999 when the association with mutations in the methyl-CpG-binding protein 2 (or MECP2) gene was identified. This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.