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

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

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...

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Bibliographic Details
Main Authors: Suli Zhang, Shuangzhu Lin, Zhenxian Liu, Wanqi Wang, Jiayi Li, Qiandui Chen, Li Yang, Cui Wang, Qiming Pang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Pediatrics
Subjects:
Waardenburg syndrome type 4C
SOX10 gene
child
Hirschsprung's disease
deafness
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.898693/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.898693/full

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