Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

Journal of Pediatrics

Volumn 148, Issue 3, 2006, Pages 410-414

  Aramaki, Michihiko ^{a,b,c,d,e,f,g,h,i}   Udaka, Toru ^{a,b,c,d,e,f,g,h,i}   Kosaki, Rika ^{a,b,c,d,e,f,g,h,i}   Makita, Yoshio ^{a,b,c,d,e,f,g,h,i}   Okamoto, Nobuhiko ^{a,b,c,d,e,f,g,h,i}   Yoshihashi, Hiroshi ^{a,b,c,d,e,f,g,h,i}   Oki, Hirotaka ^{a,b,c,d,e,f,g,h,i}   Nanao, Kenji ^{a,b,c,d,e,f,g,h,i}   Moriyama, Nobuko ^{a,b,c,d,e,f,g,h,i}   Oku, Shozo ^{a,b,c,d,e,f,g,h,i}   Hasegawa, Tomonobu ^{a,b,c,d,e,f,g,h,i}   Takahashi, Takao ^{a,b,c,d,e,f,g,h,i}   Fukushima, Yoshimitsu ^{a,b,c,d,e,f,g,h,i}   Kawame, Hiroshi ^{a,b,c,d,e,f,g,h,i}   Kosaki, Kenjiro ^{a,b,c,d,e,f,g,h,i}  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b National Children Medical Center   (Japan)

^c ASAHIKAWA MEDICAL COLLEGE   (Japan)

^d RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^e TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^f Yamato City Hospital   (Japan)

^g Department of Pediatrics ^*  (Japan)

^h Kagoshima City Hospital   (Japan)

ⁱ SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHD7 GENE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COLOBOMA; DIAGNOSTIC ACCURACY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HEARING LOSS; HETEROZYGOTE; HUMAN; LARYNGOMALACIA; MALE; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SYNDROME CHARGE; VESTIBULOCOCHLEAR NERVE DISEASE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHOANAL ATRESIA; CLEFT PALATE; COLOBOMA; CRANIOFACIAL ABNORMALITIES; DNA HELICASES; DNA-BINDING PROTEINS; EAR, EXTERNAL; FACIAL PARALYSIS; FEMALE; GENITALIA; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; LARYNX; MALE; MUTATION; PHENOTYPE; TRACHEOESOPHAGEAL FISTULA;

EID: 33646002646     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2005.10.044     Document Type: Article

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