First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene
Abstract Background Biallelic PTPRQ pathogenic variants have been previously reported as causative for autosomal recessive non-syndromic hearing loss. In 2018 the first heterozygous PTPRQ variant has been implicated in the development of autosomal dominant non-syndromic hearing loss (ADNSHL) in a Ge...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-10-01
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Series: | Journal of Translational Medicine |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12967-019-2099-5 |