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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss
PURPOSE: Hearing loss (HL) is the most common sensory disorder in children. Prompt molecular diagnosis may guide screening and management, especially in syndromic cases when HL is the single presenting feature. Exome sequencing (ES) is an appealing diagnostic tool for HL as the genetic causes are hi...
में बचाया:
में प्रकाशित: | Genet Med |
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मुख्य लेखकों: | , , , , , , , , , , , , , , , , , , , , , , , , , |
स्वरूप: | Artigo |
भाषा: | Inglês |
प्रकाशित: |
Nature Publishing Group US
2018
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विषय: | |
ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6295269/ https://ncbi.nlm.nih.gov/pubmed/29907799 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0004-x |
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