Title |
The Cardiac Phenotype in Patients With a CHD7 Mutation
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Published in |
Circulation: Genomic and Precision Medicine, June 2013
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DOI | 10.1161/circgenetics.113.000054 |
Pubmed ID | |
Authors |
Nicole Corsten-Janssen, Wilhelmina S. Kerstjens-Frederikse, Gideon J. du Marchie Sarvaas, Maria E. Baardman, Marian K. Bakker, Jorieke E.H. Bergman, Hanne D. Hove, Ketil R. Heimdal, Cecilie F. Rustad, Raoul C.M. Hennekam, Robert M.W. Hofstra, Lies H. Hoefsloot, Conny M.A. Van Ravenswaaij-Arts, Livia Kapusta |
Abstract |
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 do not provide a detailed classification of the defects. We present the first, detailed, descriptive study on the cardiac phenotype of 299 patients with a CHD7 mutation and discuss the role of CHD7 in cardiac development. |
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Norway | 1 | 100% |
Demographic breakdown
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Members of the public | 1 | 100% |
Mendeley readers
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United States | 1 | 2% |
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Demographic breakdown
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Other | 5 | 10% |
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Computer Science | 1 | 2% |
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Unknown | 15 | 29% |