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Article

A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome.

International journal of pediatric otorhinolaryngology - 1 Sept 2013

Huang Chun-Jui, Lei Tsun-Hsing, Chang Wei-Lun, Tu Tzong-Yang, Shiao An-Suey, Chiu Chih-Yang, Jap Tjin-Shing

Abstract excerpt

OBJECTIVE: To investigate the mutations in the SLC26A4 gene in a Chinese patient with Pendred syndrome. METHODS: The diagnosis of Pendred syndrome was confirmed by the family history, pure tone audiogram, perchlorate discharge test (PDT), and computed tomography (CT) of the temporal bone. DNA ext...

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PMID: 23838540
DOI: 10.1016/j.ijporl.2013.06.017

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23838540-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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