Article
Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
Human genetics - 1 Apr 2008
Jalali Ali, Aldinger Kimberly A, Chary Ajit, McLone David G, Bowman Robin M, Le Luan Cong, Jardine Phillip, Newbury-Ecob Ruth, Mallick Andrew, Jafari Nadereh, Russell Eric J, Curran John, Nguyen Pam, Ouahchi Karim, Lee Charles, Dobyns William B, Millen Kathleen J, Pina-Neto Joao M, Kessler John A, Bassuk Alexander G
Abstract excerpt
We previously reported a Vietnamese-American family with isolated autosomal dominant occipital cephalocele. Upon further neuroimaging studies, we have recharacterized this condition as autosomal dominant Dandy-Walker with occipital cephalocele (ADDWOC). A similar ADDWOC family from Brazil was also recently described. To determine the genetic etiology of ADDWOC, we performed genome-wide linkage analysis on members...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.