| Literature DB >> 16615981 |
Michihiko Aramaki1, Toru Udaka, Rika Kosaki, Yoshio Makita, Nobuhiko Okamoto, Hiroshi Yoshihashi, Hirotaka Oki, Kenji Nanao, Nobuko Moriyama, Shozo Oku, Tomonobu Hasegawa, Takao Takahashi, Yoshimitsu Fukushima, Hiroshi Kawame, Kenjiro Kosaki.
Abstract
CHD7 gene mutations were identified in 17 (71%) of 24 children clinically diagnosed to have CHARGE syndrome (C, coloboma of the iris or retina; H, heart defects; A, atresia of the choanae; R, retardation of growth and/or development; G, genital anomalies; and E, ear abnormalities). Colobomata, hearing loss, laryngomalacia, and vestibulo-cochlear defect were prevalent. Molecular testing for CHD7 enables an accurate diagnosis and provides health anticipatory guidance and genetic counseling to families with CHARGE syndrome.Entities:
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Year: 2006 PMID： 16615981 DOI： 10.1016/j.jpeds.2005.10.044
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406