Whole-Genome Sequencing Improves the Diagnosis of <i>DFNB1</i> Monoallelic Patients

Hearing loss is the most common sensory defect, due in most cases to a genetic origin. Variants in the <i>GJB2</i> gene are responsible for up to 30% of non-syndromic hearing loss. Today, several deafness genotypes remain incomplete, confronting us with a diagnostic deadlock. In this stu...

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Bibliographic Details
Main Authors: Anaïs Le Nabec, Mégane Collobert, Cédric Le Maréchal, Rémi Marianowski, Claude Férec, Stéphanie Moisan
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
WGS
Online Access:https://www.mdpi.com/2073-4425/12/8/1267