Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Abstract Background MYO15A variants, except those in the N-terminal domain, have been shown to be associated with congenital or pre-lingual severe-to-profound hearing loss (DFNB3), which ultimately requires cochlear implantation in early childhood. Recently, such variants have also been shown to pos...

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Bibliographic Details
Main Authors: Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh, Byung Yoon Choi
Format: Article
Language:English
Published: BMC 2018-02-01
Series:BMC Medical Genetics
Subjects:
MYO15A
Phenotype
Deafness
Pathogenic variant
Online Access:http://link.springer.com/article/10.1186/s12881-018-0541-9

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http://link.springer.com/article/10.1186/s12881-018-0541-9

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