Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene

Waardenburg syndrome (WS) is a congenital hereditary disease, attributed to the most common symptoms of sensorineural deafness and iris hypopigmentation. It is also known as the hearing-pigmentation deficient syndrome. Mutations on SOXl0 gene often lead to congenital deafness and has been shown to p...

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Detalles Bibliográficos
Autores principales: Li, Li, Ma, Jing, He, Xiao-li, Zhou, Yuan-tao, Zhang, Yu, Chen, Quan-dong, Zhang, Lin, Ruan, Biao, Zhang, Tie-Song
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2021
Materias:
Gene Expression & Regulation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8217986/
https://www.ncbi.nlm.nih.gov/pubmed/33345266
http://dx.doi.org/10.1042/BSR20193375

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