GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort

Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis enables proper genetic counseling and medical prognosis to patients. In this study, we present an update of testing results in a cohort of Arg...

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Detalles Bibliográficos
Autores principales: Buonfiglio, Paula, Bruque, Carlos D., Luce, Leonela, Giliberto, Florencia, Lotersztein, Vanesa, Menazzi, Sebastián, Paoli, Bibiana, Elgoyhen, Ana Belén, Dalamón, Viviana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7589744/
https://www.ncbi.nlm.nih.gov/pubmed/33096615
http://dx.doi.org/10.3390/genes11101233

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7589744/
https://www.ncbi.nlm.nih.gov/pubmed/33096615
http://dx.doi.org/10.3390/genes11101233

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