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...

Descripción completa

Detalles Bibliográficos
Autores principales: Khalil, Athar, Karroum, Samer Bou, Barake, Rana, Dunya, Gabriel, Abou-Rizk, Samer, Kamar, Amina, Nemer, Georges, Bassim, Marc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
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

Internet

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

Ejemplares similares