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[CHARGE syndrome: a new mutation in the CHD7 gene].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Dec 2014

Cabrejas Lalmolda A, Conchello Monleon R, Roncalés Samanes P, Royo Pérez D, Rite Gracia S

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Identifiers

PMID: 24636850
DOI: 10.1016/j.anpedi.2014.02.014

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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[CHARGE syndrome: a new mutation in the CHD7 gene].PMID 24636850Read ↗

Gene symbol: CHD7. Disease: CHARGE syndrome.Semantic proximity Read ↗

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CHARGE syndrome: a review.Semantic proximity Read ↗

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

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

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[CHARGE syndrome in a neonate].Semantic proximity Read ↗

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

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

[Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene].Semantic proximity Read ↗

[Genetic analysis of two children patients affected with CHARGE syndrome].Semantic proximity Read ↗

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