Ontology highlight
ABSTRACT:
SUBMITTER: Zentner GE
PROVIDER: S-EPMC2918278 | biostudies-literature | 2010 Mar
REPOSITORIES: biostudies-literature
Zentner Gabriel E GE Layman Wanda S WS Martin Donna M DM Scacheri Peter C PC
American journal of medical genetics. Part A 20100301 3
CHARGE syndrome [coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities (including deafness)] is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. De novo mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Here, we review the clinical features of 379 CHARGE patients who tested positi ...[more]