Article
Detailed mapping of a congenital heart disease gene in chromosome 3p25.
Journal of medical genetics - 1 Aug 2000
Green E K, Priestley M D, Waters J, Maliszewska C, Latif F, Maher E R
Abstract excerpt
Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterised by low birth weight, mental retardation, telecanthus, ptosis, and micrognathia. Congenital heart disease (CHD), typically atrioventricular septal defect (AVSD), occurs in about a third of patients. In total, approximately 25 cases of 3p- syndrome have been reported world wide. We previously analysed five...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
