Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss

Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss

Autosomal recessive non-syndromic hearing loss (ARNSHL) is defined as a genetically heterogeneous disorder. The aim of the present study was to screen for pathogenic variants in an Iranian pedigree with ARNSHL. Next-generation targeted sequencing of 127 deafness genes in the proband detected two nov...

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Bibliographic Details
Main Authors: Farah Talebi, Farideh Ghanbari Mardasi, Javad Mohammadi Asl, Saeed Tizno, Marziyeh Najafvand Zadeh
Format: Article
Language:English
Published: Royan Institute (ACECR), Tehran 2018-01-01
Series:Cell Journal
Subjects:
Hearing Loss
MYO1A
Novel Variant
PTPRQ
Online Access:http://celljournal.org/journal/article/17798/download

Internet

http://celljournal.org/journal/article/17798/download

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