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September 10, 2024

[Clinical phenotype and molecular genetic analysis of seven children with CHARGE syndrome].

Lili Ge Jinghui Kong Chongfen Chen Zhiyi Xia Shiyue Mei Yaodong Zhang

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Abstract

To explore the clinical phenotype and genetic etiology for seven children with CHARGE syndrome (CS).

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Cite This Study

Ge et al. (2024) studied this question.

synapsesocial.com/papers/68e58ed3b6db64358752a23b https://doi.org/10.3760/cma.j.cn511374-20230723-00012

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Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1[Clinical features and genetic analysis of a case with CHARGE syndrome due to variant of CHD7 gene].2024
2CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotypeOriginal Research · 2011 · 321 citations
3Atypical phenotypes associated with pathogenic <i>CHD7</i> variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteriaPrognostic Study · 2015 · 148 citations
4A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene2025
5Ocular manifestations of <scp>CHARGE</scp> syndrome in a pediatric cohort with genotype/phenotype analysis2024 · 4 citations