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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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Detalles Bibliográficos
Autores principales:	Zhang, Suli, Lin, Shuangzhu, Liu, Zhenxian, Wang, Wanqi, Li, Jiayi, Chen, Qiandui, Yang, Li, Wang, Cui, Pang, Qiming
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441800/ https://www.ncbi.nlm.nih.gov/pubmed/36071884 http://dx.doi.org/10.3389/fped.2022.898693

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