Article
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
European journal of human genetics : EJHG - 1 Jan 2001
Matsumoto N, Leventer R J, Kuc J A, Mewborn S K, Dudlicek L L, Ramocki M B, Pilz D T, Mills P L, Das S, Ross M E, Ledbetter D H, Dobyns W B
Abstract excerpt
Subcortical band heterotopia (SBH) comprises part of a spectrum of phenotypes associated with classical lissencephaly (LIS). LIS and SBH are caused by alterations in at least two genes: LIS1 (PAFAH1B1) at 17p13.3 and DCX (doublecortin) at Xq22.3-q23. DCX mutations predominantly cause LIS in hemiz...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
