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

<h3>Background</h3><p dir="ltr">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...

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Bibliographic Details
Main Author: Athar Khalil (5906330) (author)
Other Authors: Samer Bou Karroum (19022876) (author), Rana Barake (7962539) (author), Gabriel Dunya (8213655) (author), Samer Abou-Rizk (8213658) (author), Amina Kamar (295977) (author), Georges Nemer (295984) (author), Marc Bassim (7962545) (author)
Published: 2020
Subjects:
Biological sciences
Genetics
Biomedical and clinical sciences
Clinical sciences
Congenital hearing loss
Non-syndromic hearing loss
MITF
MYO15A
Whole exome sequencing
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