Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss

INTRODUCTION: Sensorineural hearing loss is the most frequent type of hearing impairment in the human population. Genetic factors account for over 60% of hearing loss in patients. This is a genetically heterogeneous sensorineural disorder. CASE REPORT: We carried out whole exome sequencing (WES) to...

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Detalles Bibliográficos
Autores principales: Mohammadi-asl, Javad, Saki, Nader, Dehdashtiyan, Masoud, Neissi, Mostafa, Ghanbari Mardasi, Farideh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mashhad University of Medical Sciences 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8231297/
https://www.ncbi.nlm.nih.gov/pubmed/34222109
http://dx.doi.org/10.22038/ijorl.2021.48471.2602

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8231297/
https://www.ncbi.nlm.nih.gov/pubmed/34222109
http://dx.doi.org/10.22038/ijorl.2021.48471.2602

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