A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss

BACKGROUND: Hearing loss is the most common sensory deficit with many genetic and environmental underpinnings. While causative DNA variants have been identified in over 100 genes, most deafness-causing variants are rare, apart from a few exceptions. A single SYNE4 variant co-segregating with hearing...

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Detalles Bibliográficos
Autores principales: Masterson, John, Yıldırım, Busegül, Gökkaya, Ece, Tokgöz Yılmaz, Suna, Tekin, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863260/
https://www.ncbi.nlm.nih.gov/pubmed/28958982
http://dx.doi.org/10.4274/balkanmedj.2017.0946

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863260/
https://www.ncbi.nlm.nih.gov/pubmed/28958982
http://dx.doi.org/10.4274/balkanmedj.2017.0946

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