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Article

Monodactyly in a patient with CHARGE syndrome: An additional case report.

American journal of medical genetics. Part A - 1 Jun 2024

Serigatto Henrique Regonaschi, Zechi-Ceide Roseli Maria, Parizotto Isabella, Kokitsu-Nakata Nancy Mizue

Abstract excerpt

CHARGE syndrome is a rare autosomal dominant syndrome characterized by multiple congenital anomalies including coloboma, heart defects, ear anomalies, and developmental delay, caused by pathogenic variants in the CHD7 gene. The discovery of the molecular basis of this syndrome increased the number of cases reported and expanded the phenotype and clinical variability. Limb anomalies are occasional clinical...

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Identifiers

PMID: 38352994
DOI: 10.1002/ajmg.a.63561

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Monodactyly in a patient with CHARGE syndrome: An additional case report.PMID 38352994Read ↗

Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype.Semantic proximity Read ↗

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

CHARGE syndrome: an update.Semantic proximity Read ↗

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.Semantic proximity Read ↗

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

CHARGE syndrome: a review.Semantic proximity Read ↗

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature.Semantic proximity Read ↗

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.Semantic proximity Read ↗

Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report.Semantic proximity Read ↗

CHARGE: an association or a syndrome?Semantic proximity Read ↗

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.Semantic proximity Read ↗

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