A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family

BACKGROUND: To investigate the clinical features and the underlying causal gene of a family with hereditary late-onset deafness in Inner Mongolia of China, and to provide evidence for the early genetic screening and diagnosis of this disease. METHODS: Family data were collected to draw a pedigree. A...

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Detalles Bibliográficos
Autores principales: Wu, Ningjin, Husile, Husile, Yang, Liqing, Cao, Yaning, Li, Xing, Huo, Wenyan, Bai, Haihua, Liu, Yangjian, Wu, Qizhu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425609/
https://www.ncbi.nlm.nih.gov/pubmed/30894143
http://dx.doi.org/10.1186/s12881-019-0781-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425609/
https://www.ncbi.nlm.nih.gov/pubmed/30894143
http://dx.doi.org/10.1186/s12881-019-0781-3

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