Article
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations.
American journal of medical genetics. Part A - 1 Oct 2007
Suri Mohnish, Kelehan Peter, O'neill David, Vadeyar Shantala, Grant Judith, Ahmed S Faisal, Tolmie John, McCann Emma, Lam Wayne, Smith Shirley, Fitzpatrick David, Hastie Nicholas D, Reardon William
Abstract excerpt
Meacham syndrome is a rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities. We report on eight new cases of this condition, two of whom were shown to have heterozygous missense mutations in the C-terminal zinc...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.