Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
β Scribed by Gabriel E. Zentner; Wanda S. Layman; Donna M. Martin; Peter C. Scacheri
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 200 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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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
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