Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.

Maria Pia Leone,Pietro Palumbo, Rocco Ortore,Stefano Castellana,Orazio Palumbo,Salvatore Melchionda,Teresa Palladino,Raffaella Stallone,Tommaso Mazza,Roberto Cocchi,Massimo Carella

Molecular and cellular probes（2017）

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摘要

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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