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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
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 |
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