Article
EMX2-independent familial schizencephaly: clinical and genetic analyses.
American journal of medical genetics. Part A - 1 Jun 2005
Tietjen Ian, Erdogan Füsun, Currier Sophie, Apse Kira, Chang Bernard S, Hill R Sean, Lee Christine K, Walsh Christopher A
Abstract excerpt
Schizencephaly is a human brain malformation distinguished by full-thickness unilateral or bilateral clefts through the neocortex. Heterozygous mutations in the EMX2 locus are reported to give rise to schizencephaly. However, the comprehensive identification of causative genetic loci is precluded by a lack of large pedigrees and genome-wide linkage analyses. We present here a large Turkish pedigree with three...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.