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

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 German fam...

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Detalles Bibliográficos
Publicado en:J Transl Med
Main Authors: Oziębło, Dominika, Sarosiak, Anna, Leja, Marcin L., Budde, Birgit S., Tacikowska, Grażyna, Di Donato, Nataliya, Bolz, Hanno J., Nürnberg, Peter, Skarżyński, Henryk, Ołdak, Monika
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2019
Assuntos:
Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6815010/
https://ncbi.nlm.nih.gov/pubmed/31655630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12967-019-2099-5
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