Author

Xu-Guang Qian

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Case report Aug 2026

[Clinical phenotype and genetic analysis of a child with Basel-Vanagaite-Smirin-Yosef syndrome due to variant of MED25 gene].

The c.394C>G compound heterozygous variants of the MED25 gene probably underlay the pathogenesis of BVSYS in this child, and was predicted to be deleterious by in silico analysis.

Yong Zhao, Nuo Li, Yu Han et al. · Zhonghua yi xue yi chuan xue... · 0 citations

Case report Aug 2026

[Clinical and genetic analysis of a child with MRXS34 syndrome due to variant of NONO gene].

A literature review showed that, among 23 BVSYS patients reported between 2015 and 2025, the most common clinical manifestations were developmental delay/intellectual disability and characteristic facial features, followed by speech impairment and characteristic facial features, and cardiac anomalies.

Yong Zhao, Nuo Li, Yu Han et al. · Zhonghua yi xue yi chuan xue... · 0 citations