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

• Main Authors: Suli Zhang (Author), Shuangzhu Lin (Author), Zhenxian Liu (Author), Wanqi Wang (Author), Jiayi Li (Author), Qiandui Chen (Author), Li Yang (Author), Cui Wang (Author), Qiming Pang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-08-01T00:00:00Z.
• Subjects: article
• Online Access: 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...