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J Pediatr. 2006 Mar;148(3):410-4.

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

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1
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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.

PMID:
16615981
DOI:
10.1016/j.jpeds.2005.10.044
[Indexed for MEDLINE]
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