Identification of the First Single <i>GSDME</i> Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss

Identification of the First Single <i>GSDME</i> Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss

<i>GSDME</i>, also known as <i>DFNA5</i>, is a gene implicated in autosomal dominant nonsyndromic hearing loss (ADNSHL), affecting, at first, the high frequencies with a subsequent progression over all frequencies. To date, all the <i>GSDME</i> pathogenic variants...

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Bibliographic Details
Main Authors: Luke Mansard, Christel Vaché, Julie Bianchi, Corinne Baudoin, Isabelle Perthus, Bertrand Isidor, Catherine Blanchet, David Baux, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:Diagnostics
Subjects:
<i>GSDME</i>
<i>DFNA5</i>
hearing loss
single-exon CNV
Online Access:https://www.mdpi.com/2075-4418/12/1/207

Internet

https://www.mdpi.com/2075-4418/12/1/207

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