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

• Main Authors: Yuanyuan Li (Author), Yuxue Chen (Author), Yang Sun (Author), Shouxin Li (Author), Lingli Dong (Author), Zongzhe Li (Author), Guifen Shen (Author)
• Format: Book
• Published: BMC, 2024-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 skin and hair. Variants in the sex-determining region Y-box containing ge...