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Article

A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome.

Gene - 15 Oct 2012

Sagong Borum, Seok Jun Ho, Kwon Tae-Jun, Kim Un-Kyung, Lee Sang-Heun, Lee Kyu-Yup

Abstract excerpt

Pendred syndrome (PS) is an autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss, goiter, and incomplete iodide organification. Patients with PS also have structural anomalies of the inner ear such as enlarged vestibular aqueducts (EVA) and Mondini's malformation. The goiter, which is a major clinical manifestation of PS, usually develops around adolescence. PS is caused...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22884721
DOI: 10.1016/j.gene.2012.07.033

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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