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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
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| 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 |