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.
· Frontiers in Medicine · 0 citations