CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene

Journal of Medical Genetics

Volumn 43, Issue 4, 2006, Pages 306-314

  Jongmans, M C J ^a   Admiraal, R J ^a   Van Der Donk, K P ^a   Vissers, L E L M ^a   Baas, A F ^a   Kapusta, L ^a   Van Hagen, J M ^b   Donnai, D ^c   De Ravel, T J ^d   Veltman, J A ^a   Geurts Van Kessel, A ^a   De Vries, B B A ^a   Brunner, H G ^a   Hoefsloot, L H ^a   Van Ravenswaaij, C M A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ST MARY S HOSPITAL   (United Kingdom)

^d UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL STUDY; COHORT ANALYSIS; COLOBOMA; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; EAR DISEASE; ENDOCRINE DISEASE; FEMALE; GASTROINTESTINAL DISEASE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HUMAN; INFANT; MALE; MOSAICISM; NEUROLOGIC DISEASE; NEWBORN; NEWBORN PERIOD; PHARYNX DISEASE; PRIORITY JOURNAL; SKELETON MALFORMATION; SYNDROME CHARGE; UROGENITAL TRACT DISEASE; VESTIBULAR DISORDER;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CENTRAL NERVOUS SYSTEM DISEASES; CHILD; CHILD, PRESCHOOL; CHOANAL ATRESIA; COLOBOMA; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENETIC SCREENING; GESTATIONAL AGE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOUTH DISEASES; MUTATION; PHENOTYPE; SPINAL DISEASES; SYNDROME; VESTIBULAR DISEASES;

FISTULA;

EID: 33645781251     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.036061     Document Type: Article

References (21)

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