Article
Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.
Molecular and cellular probes - 1 Jun 2017
Leone Maria Pia, Palumbo Pietro, Ortore Rocco, Castellana Stefano, Palumbo Orazio, Melchionda Salvatore, Palladino Teresa, Stallone Raffaella, Mazza Tommaso, Cocchi Roberto, Carella Massimo
Abstract excerpt
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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