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Article

[Investigation of SLC26A4 mutations associated with inner ear malformations].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Jan 2012

Zhu Qingwen, Zang Wen, Yuan Yongyi, Han Haixia, Zhang Xiqin, Jiang Xinxia, Ren Xiumin, Feng Caihong, Lu Hong

Abstract excerpt

OBJECTIVE: To study the molecular pathogenesis of SLC26A4 mutations associated with inner ear malformations including large vestibular aqueduct syndrome (LVAS), Mondini dysplasia and inner ear malformations but not accompanied with LVAS. METHOD: DNA sample and clinical material were obtained from 14 sporadic LVAS probands, six Mondini dysplasia probands and seven inner ear malformations excluding IVAS probands....

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Identifiers

PMID: 22509691
DOI: 10.13201/j.issn.1001-1781.2012.01.012

Genes

GJB2

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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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