The cardiac phenotype in patients with a CHD7 mutation

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 hear...

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Bibliographic Details
Published in:Circulation. Cardiovascular genetics, Vol. 6, No. 3 (2013), p. 248-54
Main Author: Corsten-Janssen, Nicole
Other Involved Persons: 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
Format: electronic Article
Language:English
ISSN:1942-3268
Item Description:Date Completed 18.10.2013
Date Revised 21.11.2013
published: Print
Citation Status MEDLINE
Copyright: From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Physical Description:Online-Ressource
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