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Mutation update on the CHD7 gene involved in CHARGE syndrome

✍ Scribed by Nicole Janssen; Jorieke E. H. Bergman; Morris A. Swertz; Lisbeth Tranebjaerg; Marianne Lodahl; Jeroen Schoots; Robert M. W. Hofstra; Conny M. A. van Ravenswaaij-Arts; Lies H. Hoefsloot

Book ID: 112099747
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 348 KB
Volume: 33
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.22086

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## Abstract CHARGE syndrome is an autosomal dominant condition that is caused by mutations in the __CHD7__ gene. Few familial cases of this syndrome have been reported and these were characterized by a wide clinical variability. We here report on five __CHD7__ mutation positive families and comment