Cargando…
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...
Autores principales: | 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: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815010/ https://www.ncbi.nlm.nih.gov/pubmed/31655630 http://dx.doi.org/10.1186/s12967-019-2099-5 |
Ejemplares similares
-
TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss
por: Oziębło, Dominika, et al.
Publicado: (2021) -
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73
por: Eisenberger, Tobias, et al.
Publicado: (2018) -
Searching for the Molecular Basis of Partial Deafness
por: Oziębło, Dominika, et al.
Publicado: (2022) -
The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation
por: Bałdyga, Natalia, et al.
Publicado: (2023) -
Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss
por: Ołdak, Monika, et al.
Publicado: (2019)