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Article

Evidence for genotype-phenotype correlation for OTOF mutations.

International journal of pediatric otorhinolaryngology - 1 Jun 2014

Yildirim-Baylan Muzeyyen, Bademci Guney, Duman Duygu, Ozturkmen-Akay Hatice, Tokgoz-Yilmaz Suna, Tekin Mustafa

Abstract excerpt

OBJECTIVES: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations. METHODS: Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated audiologically with otoscopic examination, pure-tone audiometry, tympanometry with acoustic reflex testing, auditory brain stem...

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Share to Audiometry
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Evoked Potentials, Auditory, Brain Stem

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Source

Open in PubMed Open full text

Identifiers

PMID: 24746455
DOI: 10.1016/j.ijporl.2014.03.022
PMCID: PMC4066206

Genes

OTOF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Evidence for genotype-phenotype correlation for OTOF mutations.PMID 24746455Read ↗

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