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A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73
PURPOSE: Hearing loss is genetically extremely heterogeneous, making it suitable for next-generation sequencing (NGS). We identified a four-generation family with nonsyndromic mild to severe hearing loss of the mid- to high frequencies and onset from early childhood to second decade in seven members...
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| Publicat a: | Genet Med |
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| Autors principals: | , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5993672/ https://ncbi.nlm.nih.gov/pubmed/29309402 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.155 |
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