First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

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...

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Bibliographic Details
Main Authors: Dominika Oziębło, Anna Sarosiak, Marcin L. Leja, Birgit S. Budde, Grażyna Tacikowska, Nataliya Di Donato, Hanno J. Bolz, Peter Nürnberg, Henryk Skarżyński, Monika Ołdak
Format: Article
Language:English
Published: BMC 2019-10-01
Series:Journal of Translational Medicine
Subjects:
Hearing loss
PTPRQ
Pathogenic
Dominant
Next-generation sequencing
Linkage
Online Access:http://link.springer.com/article/10.1186/s12967-019-2099-5

Internet

http://link.springer.com/article/10.1186/s12967-019-2099-5

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