A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family

A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family

Abstract Background Hearing Loss (HL) is the most common sensorineural condition in humans. Mutations in the TMPRSS3 gene (DNFB8/10 locus) have been linked to autosomal recessive non-syndromic hearing loss (ARNSHL). Methods Whole-exome sequencing (WES) was utilized to identify disease-causing varian...

Full description

Saved in:
Bibliographic Details
Main Authors: Nahid Rezaie (Author), Saeedeh Sadat Ghazanfari (Author), Seyede Mahsa Mousavikia (Author), Nader Mansour Samaei (Author), Morteza Oladnabi (Author), Abdolazim Sarli (Author), Teymoor Khosravi (Author)
Format: Book
Published: BMC, 2024-11-01T00:00:00Z.
Subjects:
article
Online Access:Connect to this object online.
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

Connect to this object online.

3rd Floor Main Library

Holdings details from 3rd Floor Main Library
Call Number: A1234.567
Copy 1 Available

Similar Items