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Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss
Hereditary hearing loss (HL) is a common sensory disorder, with an incidence of 1–2 per 1000 newborns, and has a genetic etiology in over 50% of cases. It occurs either as part of a syndrome or in isolation and is genetically very heterogeneous which poses a challenge for clinical and molecular diag...
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| Pubblicato in: | PLoS One |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Public Library of Science
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5749682/ https://ncbi.nlm.nih.gov/pubmed/29293505 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0188578 |
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