Article
The cardiac phenotype in patients with a CHD7 mutation.
Circulation. Cardiovascular genetics - 1 Jun 2013
Corsten-Janssen Nicole, Kerstjens-Frederikse Wilhelmina S, du Marchie Sarvaas Gideon J, Baardman Maria E, Bakker Marian K, Bergman Jorieke E H, Hove Hanne D, Heimdal Ketil R, Rustad Cecilie F, Hennekam Raoul C M, Hofstra Robert M W, Hoefsloot Lies H, Van Ravenswaaij-Arts Conny M A, Kapusta Livia
Abstract excerpt
BACKGROUND: Loss-of-function mutations in CHD7 cause Coloboma, Heart Disease, Atresia of Choanae, Retardation of Growth and/or Development, Genital Hypoplasia, and Ear Abnormalities With or Without Deafness (CHARGE) syndrome, a variable combination of multiple congenital malformations including heart defects. Heart defects are reported in 70% to 92% of patients with a CHD7 mutation, but most studies are small and...
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