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

GSDME, also known as DFNA5, 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 GSDME pathogenic variants associated with deafness lead to skipping of exon 8. In...

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Detalles Bibliográficos
Autores principales: Mansard, Luke, Vaché, Christel, Bianchi, Julie, Baudoin, Corinne, Perthus, Isabelle, Isidor, Bertrand, Blanchet, Catherine, Baux, David, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774889/
https://www.ncbi.nlm.nih.gov/pubmed/35054374
http://dx.doi.org/10.3390/diagnostics12010207

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774889/
https://www.ncbi.nlm.nih.gov/pubmed/35054374
http://dx.doi.org/10.3390/diagnostics12010207

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