Article
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
American journal of medical genetics. Part A - 1 Mar 2010
Zentner Gabriel E, Layman Wanda S, Martin Donna M, Scacheri Peter C
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Animals
- Coloboma
- DNA Helicases
- DNA-Binding Proteins
- Disease Models, Animal
- Ear, Inner
- Facial Paralysis
- Heart Defects, Congenital
- Humans
- Mice