Author

Ting Zhang

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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