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Article

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

5 Apr 2019

Abstract excerpt

BACKGROUND: MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). The majority of MYO15A variants are associated with a congenital severe-to-profound hearing loss phenotype, except for MYO15A variants in exon 2, which cause a milder auditory phenotype, suggesting a genotype-phenotype correlation of MYO15A. However, MYO15A variants not in exon 2 related to a milder phenotype...

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PMID: 30953472
DOI: 10.1186/s12881-019-0790-2

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