Author

Rongrong Pan

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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

Case report Open access Aug 2026

De Novo ZNF292 Variants Cause Neurodevelopmental Disorder with Short Stature: A Clinical Case Series of Eight Individuals

This study contributes additional cases to the expanding phenotypic and mutational spectrum of ZNF292-related neurodevelopmental disorder and indicates growth retardation was observed in all eight individuals, but given the limitations of a single-center referral cohort, this observation should be interpreted with caution and requires validation in larger studies.

Yaping Shen, R. Pan, Chen Liu et al. · Genes · 0 citations