A novel missense pathogenic variant c.9455T > G (p.L3152R) in CDH23 underlies autosomal recessive non-syndromic hearing loss

A novel missense pathogenic variant c.9455T > G (p.L3152R) in CDH23 underlies autosomal recessive non-syndromic hearing loss

Abstract Background Hearing loss (HL) is the most common sensory-neural defect worldwide and the second most common disability in Iran. This study aimed to identify the genetic cause of autosomal recessive non-syndromic hearing loss (ARNSHL) in a large Iranian family using next-generation sequencing...

Full description

Saved in:
Bibliographic Details
Main Authors: Ladan Sadeghian, Marziyeh Hoseinzadeh, Mohammad reza Pourreza, Saeed Khalili, Najmeh Fattahi, Mohammad Amin Tabatabaiefar
Format: Article
Language:English
Published: SpringerOpen 2025-06-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Cadherins
Hearing Loss
Sensorineural
Sequence Analysis
DNA
Genetic Variation
Online Access:https://doi.org/10.1186/s43042-025-00730-7
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.1186/s43042-025-00730-7

Similar Items