Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C

• Váldodahkkit: Suli Zhang (Dahkki), Shuangzhu Lin (Dahkki), Zhenxian Liu (Dahkki), Wanqi Wang (Dahkki), Jiayi Li (Dahkki), Qiandui Chen (Dahkki), Li Yang (Dahkki), Cui Wang (Dahkki), Qiming Pang (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Frontiers Media S.A., 2022-08-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

A 5-month-old patient presented with grayish-blue iris bilaterally, skin and mucosal pigmentation loss, Hirschsprung's disease, full-blown growth retardation, and sensorineural deafness. The patient's whole exon gene sequencing revealed a spontaneous heterozygous code-shifting mutation in...