Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report

Waardenburg syndrome type 2 (WS2) has been reported to be a rare hereditary disorder, which is distinguished by vivid blue eyes, varying degrees of hearing impairment, and abnormal pigment deposition in the sk...

Source: BMC Medical Genomics - April 24, 2024 Category: Genetics & Stem Cells Authors: Yuanyuan Li, Yuxue Chen, Yang Sun, Shouxin Li, Lingli Dong, Zongzhe Li and Guifen Shen Tags: Case Report Source Type: research