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Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family
Usher syndrome (USH) is an autosomal recessive (AR) multi-sensory degenerative disorder leading to deaf-blindness. USH is clinically subdivided into three subclasses, and 10 genes have been identified thus far. Clinical and genetic heterogeneities in USH make a precise diagnosis difficult. A dominan...
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| Publicado no: | Int J Mol Med |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
D.A. Spandidos
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4564089/ https://ncbi.nlm.nih.gov/pubmed/26310143 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/ijmm.2015.2322 |
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