SLC12A2: a new gene associated with autosomal dominant Non-Syndromic hearing loss in humans

Autor:	Giorgia Girotto, Daniele Dell'Orco, Anna Morgan, Umberto Ambrosetti, Giulia Pelliccione
Přispěvatelé:	Morgan, A., Pelliccione, G., Ambrosetti, U., Dell'Orco, D., Girotto, G.
Rok vydání:	2020
Předmět:	Genetics business.industry Hearing loss 03 medical and health sciences Speech and Hearing 0302 clinical medicine N/A Otorhinolaryngology otorhinolaryngologic diseases Medicine Missense mutation medicine.symptom 030223 otorhinolaryngology business Gene 030217 neurology & neurosurgery Non syndromic
Zdroj:	Hearing, Balance and Communication. 18:149-151
ISSN:	2169-5725 2169-5717
Popis:	Non-Syndromic Hereditary Hearing Loss (NSHHL) is the most common congenital sensorineural disorder with a reported frequency of 1/500 live births. It is char- acterised by a high genetic heterogeneity (approx. 115 genes and 170 loci so far identified) and current genetic tests fail to provide a diagnosis for a majority of cases, suggesting that many novel HL genes and muta- tions need to be identified [1]. In this light, the large genetic heterogeneity of the disease can be overcome using innovative technologies such as next generation sequencing techniques including Whole Exome Sequencing (WES).
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc6074b7a107169b56415291aded3081 https://doi.org/10.1080/21695717.2020.1726670 Zobrazit plný text záznamu