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

• Үндсэн зохиолчид: Yuanyuan Li (Зохиогч), Yuxue Chen (Зохиогч), Yang Sun (Зохиогч), Shouxin Li (Зохиогч), Lingli Dong (Зохиогч), Zongzhe Li (Зохиогч), Guifen Shen (Зохиогч)
• Формат: Ном
• Хэвлэсэн: BMC, 2024-04-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...