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Article

Identification of two heterozygous deafness mutations in SLC26A4 (PDS) in a Chinese family with two siblings.

International journal of audiology - 1 Feb 2013

Chen Jie, Wei Qinjun, Yao Jun, Qian Xiaoyun, Dai Yanhong, Yang Ye, Cao Xin, Gao Xia

Abstract excerpt

OBJECTIVE: To detect genetic cause of two Chinese siblings (patient 1 and 2) with Pendred syndrome. DESIGN: Patients and their parents underwent clinical and genetic evaluations. To identify genetic mutations, sequencing of SLC26A4 was carried out. STUDY SAMPLE: Two siblings and their parents. RESULTS: Clinical evaluations showed that patient 1 suffered from bilateral postlingual progressive sensorineural hearing...

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PMID: 23151031
DOI: 10.3109/14992027.2012.723142

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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