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Article

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.

American journal of medical genetics. Part A - 1 Mar 2009

Shearer A Eliot, Hildebrand Michael S, Bromhead Catherine J, Kahrizi Kimia, Webster Jennifer A, Azadeh Batool, Kimberling William J, Anousheh Ali, Nazeri Arash, Stephan Dietrich, Najmabadi Hossein, Smith Richard J H, Bahlo Melanie

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Share to Chromosomes, Human, Pair 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19215054
DOI: 10.1002/ajmg.a.32670
PMCID: PMC2650742

Genes

RDX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.PMID 19215054Read ↗

A novel LOXHD1 variant in a Chinese couple with hearing loss.Semantic proximity Read ↗

Clinical manifestations of DFNB29 deafness.Semantic proximity Read ↗

Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing LossSemantic proximity Read ↗

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

Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.Semantic proximity Read ↗

A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.Semantic proximity Read ↗

A novel missense mutation (c.221G>C) in RHD gene identified in a Chinese woman.Semantic proximity Read ↗

An intron c.149-2632T>A change in RHD is associated with aberrant transcription and very weak D phenotype.Semantic proximity Read ↗

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.Semantic proximity Read ↗

A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss.Semantic proximity Read ↗

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.Semantic proximity Read ↗

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