Clinical relevance of the TECTA c.6183G>T variant identified in a family with autosomal dominant hearing loss: a case report

Missense variants in the α-tectorin gene (TECTA) cause autosomal dominant (DFNA8/A12) non-syndromic hearing loss (ADNSHL) and account for a considerable number of ADNSHL cases. According to genotype-phenotype correlation studies, missense variants in the zona pellucida (ZP) domain of α-tectorin pred...

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Detalles Bibliográficos
Autores principales: Sansović, Ivona, Meašić, Ana-Maria, Odak, Ljubica, Kero, Mijana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Croatian Medical Schools 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10668043/
https://www.ncbi.nlm.nih.gov/pubmed/37927186
http://dx.doi.org/10.3325/cmj.2023.64.329

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10668043/
https://www.ncbi.nlm.nih.gov/pubmed/37927186
http://dx.doi.org/10.3325/cmj.2023.64.329

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