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Article

An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene.

Archives of Iranian medicine - 1 Mar 2023

Mohseni Marzieh, Mohammadi Yusuf, Zare Ashrafi Farzane, Ghodratpour Fatemeh, Jalalvand Khadijeh, Arzhangi Sanaz, Babanejad Mojgan, Azizi Mohammad Hossein, Kahrizi Kimia, Najmabadi Hossein

Abstract excerpt

Genetic analysis of non-syndromic hearing loss (NSHL) has been challenged due to marked clinical and genetic heterogeneity. Today, advanced next-generation sequencing (NGS) technologies, such as exome sequencing (ES), have drastically increased the efficacy of gene identification in heterogeneous Mendelian disorders. Here, we present the utility of ES and re-evaluate the phenotypic data for identifying candidate...

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Identifiers

PMID: 37543941
DOI: 10.34172/aim.2023.27
PMCID: PMC10685723

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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