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Article

PDZD7 and hearing loss: More than just a modifier.

American journal of medical genetics. Part A - 1 Dec 2015

Booth Kevin T, Azaiez Hela, Kahrizi Kimia, Simpson Allen C, Tollefson William T A, Sloan Christina M, Meyer Nicole C, Babanejad Mojgan, Ardalani Fariba, Arzhangi Sanaz, Schnieders Michael J, Najmabadi Hossein, Smith Richard J H

Abstract excerpt

Deafness is the most frequent sensory disorder. With over 90 genes and 110 loci causally implicated in non-syndromic hearing loss, it is phenotypically and genetically heterogeneous. Here, we investigate the genetic etiology of deafness in four families of Iranian origin segregating autosomal recessive non-syndromic hearing loss (ARNSHL). We used a combination of linkage analysis, homozygosity mapping, and a...

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Topics

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Share to Carrier Proteins
Share to Chromosomes, Human, Pair 10

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genes, Recessive

Share to Genetic Heterogeneity

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Source

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Identifiers

PMID: 26416264
DOI: 10.1002/ajmg.a.37274
PMCID: PMC4741280

Genes

PDZD7
CIB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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