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Variants in CIB2 cause DFNB48 and not USH1J
The genetic, mutational and phenotypic spectrum of deafness-causing genes shows great diversity and pleiotropy. The best examples are the group of genes, which when mutated can either cause non-syndromic hearing loss (NSHL) or the most common dual sensory impairment, Usher Syndrome (USH). Variants i...
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| Veröffentlicht in: | Clin Genet |
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| Hauptverfasser: | , , , , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5851821/ https://ncbi.nlm.nih.gov/pubmed/29112224 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13170 |
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