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

• Principais autores: Suli Zhang (Autor), Shuangzhu Lin (Autor), Zhenxian Liu (Autor), Wanqi Wang (Autor), Jiayi Li (Autor), Qiandui Chen (Autor), Li Yang (Autor), Cui Wang (Autor), Qiming Pang (Autor)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2022-08-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...