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Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5
In a consanguineous Turkish family diagnosed with autosomal recessive nonsyndromic hearing impairment (arNSHI), a homozygous region of 47.4 Mb was shared by the two affected siblings on chromosome 6p21.1-q15. This region contains 247 genes including the known deafness gene MYO6. No pathogenic varian...
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| Pubblicato in: | Eur J Hum Genet |
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| Autori principali: | , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4297911/ https://ncbi.nlm.nih.gov/pubmed/24781754 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.83 |
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