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Yue-Hua Wu

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Open access Oct 2026

A homozygous variant in the GJB2 gene as a potential phenocopy of Waardenburg syndrome: case report

Waardenburg syndrome (WS) is a neurocristopathy primarily characterized by congenital hearing loss and multisystem pigmentary abnormalities. We report a 12-year-old Han Chinese girl who presented with moderate-to-severe sensorineural hearing loss, a wide nasal root, diffuse hypopigmentation of the hair, and facial fr...

Yue-Hua Wu, Yu-Peng Chen, Zi-Meng Guo et al. · 0 citations

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