𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Ophthalmic features of CHARGE syndrome with CHD7 mutations

✍ Scribed by Sachiko Nishina; Rika Kosaki; Tatsuhiko Yagihashi; Noriyuki Azuma; Nobuhiko Okamoto; Yoshikazu Hatsukawa; Kenji Kurosawa; Takahiro Yamane; Seiji Mizuno; Kinichi Tsuzuki; Kenjiro Kosaki


Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
145 KB
Volume
158A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Familial CHARGE syndrome and the CHD7 ge
✍ Marjolijn C.J. Jongmans; Lies H. Hoefsloot; Kim P. van der Donk; Ronald J. Admir πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 224 KB πŸ‘ 2 views

## 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