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Article

Genotype-phenotype correlations for SLC26A4-related deafness.

Human genetics - 1 Dec 2007

Azaiez Hela, Yang Tao, Prasad Sai, Sorensen Jessica L, Nishimura Carla J, Kimberling William J, Smith Richard J H

Abstract excerpt

Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (EVA) are two recessive disorders characterized by the association of sensorineural hearing loss (SNHL) with inner ear malformations that range from isolated EVA to Mondini Dysplasia, a complex malformation that includes a cochlear dysplasia and EVA. Mutations in the SLC26A4 gene, coding for the protein pendrin, have been implicated in the...

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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: 17690912
DOI: 10.1007/s00439-007-0415-2
PMCID: PMC10519375

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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