Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.

Abstract excerpt

Mutations in L1CAM, the gene encoding the L1 neuronal cell adhesion molecule, lead to an X-linked trait characterized by one or more of the symptoms of hydrocephalus, adducted thumbs, agenesis or hypoplasia of corpus callosum, spastic paraplegia, and mental retardation (L1-disease). We screened 153 cases with prenatally or clinically suspected X-chromosomal hydrocephalus for L1CAM mutations by SSCP analysis of...

Topics

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

• Share to Agenesis of Corpus Callosum
• Share to Frameshift Mutation