Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF

Abstract 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...

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Bibliographic Details
Main Authors: Athar Khalil, Samer Bou Karroum, Rana Barake, Gabriel Dunya, Samer Abou-Rizk, Amina Kamar, Georges Nemer, Marc Bassim
Format: Article
Language:English
Published: BMC 2020-01-01
Series:BMC Medical Genetics
Subjects:
Congenital hearing loss
Non-syndromic hearing loss
MITF
MYO15A
Whole exome sequencing
Online Access:https://doi.org/10.1186/s12881-019-0942-4

Internet

https://doi.org/10.1186/s12881-019-0942-4

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