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Article

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

The Journal of pediatrics - 1 Mar 2006

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

Abstract excerpt

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...

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Cleft Palate
Coloboma
Craniofacial Abnormalities
DNA Helicases
Ear, External

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Growth Disorders

Heart Defects, Congenital

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Identifiers

PMID: 16615981
DOI: 10.1016/j.jpeds.2005.10.044

Genes

CHD7

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Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.PMID 16615981Read ↗

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Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.Semantic proximity Read ↗

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.Semantic proximity Read ↗

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.Semantic proximity Read ↗

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New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.Semantic proximity Read ↗

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