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Article

A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery - 1 Jun 2018

Tabatabaiefar Mohammad Amin, Pourreza Mohammad Reza, Tahmasebi Parisa, Saki Nader, Hashemzadeh Chaleshtori Morteza, Salehi Rasoul, Mohammadi-Asl Javad

Abstract excerpt

Objective Hearing loss (HL) is the most common sensory-neural defect and the most heterogeneous trait in humans, with the involvement of >100 genes, which make a molecular diagnosis problematic. Next-generation sequencing (NGS) is a new strategy that can overcome this problem. Study Design Descriptive experimental study. Setting Diagnostic laboratory. Subjects and Methods A comprehensive family history was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29484972
DOI: 10.1177/0194599818759007

Genes

OTOF
PGD
GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss.PMID 29484972Read ↗

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