Author

Ke-Xin Fang

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Review Open access Aug 2026

A Candidate MEST Splice-Site Variant in a Patient with Silver–Russell Syndrome-like Phenotype: First Report and Literature Review

MEST is identified as a plausible candidate gene for SRS and provides a rationale for further functional studies, including in silico predictions and clinical correlation.

Xiaocha Xu, R. Pan, Shuai Chen et al. · Genes · 0 citations

Review Open access Aug 2026

Three Novel de Novo SOX4 Variants Expanding the Phenotypic Spectrum: Case Series and Literature Review

The phenotypic spectrum of SOX4-related disorders is expanded to include nystagmus for the first time, and one patient presenting with severe hypospadias and cryptorchidism is Documented, providing new evidence to facilitate clinical recognition and genetic counseling.

H. Miao, Ting Zhang, Kexin Fang et al. · Genes · 0 citations