TY - JOUR
T1 - Phenotypic spectrum of CHARGE syndrome with CHD7 mutations
AU - Aramaki, Michihiko
AU - Udaka, Toru
AU - Kosaki, Rika
AU - Makita, Yoshio
AU - Okamoto, Nobuhiko
AU - Yoshihashi, Hiroshi
AU - Oki, Hirotaka
AU - Nanao, Kenji
AU - Moriyama, Nobuko
AU - Oku, Shozo
AU - Hasegawa, Tomonobu
AU - Takahashi, Takao
AU - Fukushima, Yoshimitsu
AU - Kawame, Hiroshi
AU - Kosaki, Kenjiro
PY - 2006/3
Y1 - 2006/3
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=33646002646&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33646002646&partnerID=8YFLogxK
U2 - 10.1016/j.jpeds.2005.10.044
DO - 10.1016/j.jpeds.2005.10.044
M3 - Article
C2 - 16615981
AN - SCOPUS:33646002646
VL - 148
SP - 410
EP - 414
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 3
ER -