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Article

Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.

Clinical genetics - 1 Feb 2014

Cappuccio G, Ginocchio V M, Maffè A, Ungari S, Andria G, Melis D

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Share to CHARGE Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23495722
DOI: 10.1111/cge.12115

Genes

CHD7

Provenance

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Related research

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Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.PMID 23495722Read ↗

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Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndromeSemantic proximity Read ↗

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Mutation update on the CHD7 gene involved in CHARGE syndrome.Semantic proximity Read ↗

CHARGE syndrome: a review.Semantic proximity Read ↗

[CHARGE syndrome: a new mutation in the CHD7 gene].Semantic proximity Read ↗

De novo Splice Site Mutation of the CHD7 Gene in a Chinese Patient with Typical CHARGE Syndrome.Semantic proximity Read ↗

A novel CHD7 variant in a chinese family with CHARGE syndrome.Semantic proximity Read ↗

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.Semantic proximity Read ↗

[Clinical phenotype and analysis of CHD7 gene variants in three children patients with CHARGE syndrome].Semantic proximity Read ↗

Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.Semantic proximity Read ↗

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