A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome

BACKGROUND: Waardenburg syndrome (WS) is the most common form of syndromic deafness with phenotypic and genetic heterogeneity in the Chinese population. This study aimed to clarify the clinical characteristics and the genetic cause in eight Chinese WS families (including three familial and five spor...

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Detalles Bibliográficos
Autores principales: Li, Sijun, Qin, Mengyao, Mao, Shuang, Mei, Lingyun, Cai, Xinzhang, Feng, Yong, He, Chufeng, Song, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632049/
https://www.ncbi.nlm.nih.gov/pubmed/36329483
http://dx.doi.org/10.1186/s12920-022-01379-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632049/
https://www.ncbi.nlm.nih.gov/pubmed/36329483
http://dx.doi.org/10.1186/s12920-022-01379-6

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