Article
Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.
American journal of medical genetics. Part A - 30 Apr 2003
Lalani Seema R, Stockton David W, Bacino Carlos, Molinari Laura M, Glass Nancy L, Fernbach Susan D, Towbin Jeffrey A, Craigen William J, Graham John M, Hefner Margaret A, Lin Angela E, McBride Kim L, Davenport Sandra L, Belmont John W
Abstract excerpt
CHARGE syndrome is a distinctive subgroup within the more heterogeneous group of patients with CHARGE association. While significant progress has been made in the clinical delineation of this syndrome, the molecular basis of the disorder remains unknown. Based on the complex phenotype, some overlap with DiGeorge/velocardiofacial syndrome (DGS/VCFS), and its estimated population incidence, we hypothesized that...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.