A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV

Abstract Background Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of sensorineural hearing loss and accumulated pigmentation in the skin, hair and iris. The syndrome is classified into four types (WS1, WS2, WS3, and WS4), each with different clinical phenotype...

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Autori principali: Yanan Wang (Autore), Yuqiong Chai (Autore), Pai Zhang (Autore), Weiwei Zang (Autore)
Natura: Libro
Pubblicazione: BMC, 2023-06-01T00:00:00Z.
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