The cardiac phenotype in patients with a CHD7 mutation

Circulation: Cardiovascular Genetics

Volumn 6, Issue 3, 2013, Pages 248-254

  Corsten Janssen, Nicole ^a   Kerstjens Frederikse, Wilhelmina S ^b   Du Marchie Sarvaas, Gideon J ^c   Baardman, Maria E ^a   Bakker, Marian K ^a   Bergman, Jorieke E H ^a   Hove, Hanne D ^c   Heimdal, Ketil R ^d   Rustad, Cecilie F ^d   Hennekam, Raoul C M ^e   Hofstra, Robert M W ^f   Hoefsloot, Lies H ^g   Van Ravenswaaij Arts, Conny M A ^a   Kapusta, Livia ^g,h  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b UNIVERSITY OF GRONINGEN   (Netherlands)

^c Rigshospitalet   (Denmark)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

^f ERASMUS MEDICAL CENTER   (Netherlands)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h WOLFSON MEDICAL CENTER   (Israel)

Author keywords

CHARGE syndrome; CHD7 protein; Congenital; Genetics; Heart defect; Human; Neural crest

Indexed keywords

CHD7 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ATRIOVENTRICULAR SEPTAL DEFECT; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HEART DEVELOPMENT; HEART LEFT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HEART RIGHT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

COHORT STUDIES; DNA HELICASES; DNA-BINDING PROTEINS; FEMALE; HEART; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE;

EID: 84884478730     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.113.000054     Document Type: Article

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