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

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) t...

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Bibliographic Details
Main Authors: Javad Mohammadi Asl, Nader Saki, Masoud Dehdashtiyan, Mostafa Neissi, Farideh Ghanbari Mardasi
Format: Article
Language:English
Published: Mashhad University of Medical Sciences 2021-05-01
Series:Iranian Journal of Otorhinolaryngology
Subjects:
hearing loss
novel mutation
next generation sequencing (ngs)
whole exome sequencing (wes)
wfs1
Online Access:https://ijorl.mums.ac.ir/article_17922_ea71f8fd2567df5374f6ac1f977ec54a.pdf

Internet

https://ijorl.mums.ac.ir/article_17922_ea71f8fd2567df5374f6ac1f977ec54a.pdf

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