| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5534569 | Molecular and Cellular Probes | 2017 | 4 Pages |
Abstract
â¢HL: Hearing loss.â¢ARNSHL: Non-Syndromic Autosomal Recessive Hearing Loss.â¢SHL: Syndromic Hearing Loss.â¢NSHL: Non -Syndromic Hearing Loss.â¢DI: Digenic Inheritance.
The paper describes a putative digenic form of deafness in two siblings affected by non-syndromic hereditary hearing loss, detected by a Targeted resequencing approach. Given that a previous paper suggested TMPRSS3 and GJB2 genes as responsible for a digenic form of hearing loss, our data support and reinforce this hypothesis.
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Authors
Maria Pia Leone, Pietro Palumbo, Rocco Ortore, Stefano Castellana, Orazio Palumbo, Salvatore Melchionda, Teresa Palladino, Raffaella Stallone, Tommaso Mazza, Roberto Cocchi, Massimo Carella,