Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

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, heari...

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Veröffentlicht in:	The Journal of pediatrics 2006-03, Vol.148 (3), p.410-414
Hauptverfasser:	Aramaki, Michihiko, Udaka, Toru, Kosaki, Rika, Makita, Yoshio, Okamoto, Nobuhiko, Yoshihashi, Hiroshi, Oki, Hirotaka, Nanao, Kenji, Moriyama, Nobuko, Oku, Shozo, Hasegawa, Tomonobu, Takahashi, Takao, Fukushima, Yoshimitsu, Kawame, Hiroshi, Kosaki, Kenjiro
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adolescent Biological and medical sciences Child Child, Preschool Choanal Atresia - genetics Cleft Palate - genetics Coloboma - genetics Craniofacial Abnormalities - genetics DNA Helicases - genetics DNA-Binding Proteins - genetics Ear, External - abnormalities Facial Paralysis - genetics Female General aspects Genitalia - abnormalities Growth Disorders - genetics Heart Defects, Congenital - genetics Humans Infant Larynx - abnormalities Male Medical sciences Mutation Phenotype Tracheoesophageal Fistula - genetics
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