[Clinical features and genetic analysis of a case with CHARGE syndrome due to variant of CHD7 gene].

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

1. 1[Clinical phenotype and molecular genetic analysis of seven children with CHARGE syndrome].2024
2. 2Atypical phenotypes associated with pathogenic <i>CHD7</i> variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteriaPrognostic Study · 2015 · 148 citations
3. 3A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene2025
4. 4CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotypeOriginal Research · 2011 · 326 citations
5. 5De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review2025