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Article

Gene symbol: CHD7. Disease: CHARGE syndrome.

Human genetics - 1 Jun 2008

Simi Paolo, Michelucci Angela, Iacopetti Paola, Pellegrini Silvia, Conidi Maria Elena

Abstract excerpt

No abstract is available from the source.

Topics

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Abnormalities, Multiple
Alternative Splicing
DNA-Binding Proteins
DNA Helicases
CHD7 gene
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 20960640

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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

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

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

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

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

Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly.Semantic proximity Read ↗

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

Clinical utility gene card for: CHARGE syndrome - update 2015.Semantic proximity Read ↗

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

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