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Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF
BACKGROUND: Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1–5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing loss cases. METHODS: In the...
Autores principales: | Khalil, Athar, Karroum, Samer Bou, Barake, Rana, Dunya, Gabriel, Abou-Rizk, Samer, Kamar, Amina, Nemer, Georges, Bassim, Marc |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6941291/ https://www.ncbi.nlm.nih.gov/pubmed/31898538 http://dx.doi.org/10.1186/s12881-019-0942-4 |
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