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Article

Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.

The Laryngoscope - 1 May 2012

Wang Shih-Hao, Wu Chen-Chi, Lu Ying-Chang, Lin Yin-Hung, Su Yi-Ning, Hwu Wuh-Liang, Yu I-Shing, Hsu Chuan-Jen

Abstract excerpt

OBJECTIVES/HYPOTHESIS: To explore the genetic characteristics of branchio-oto-renal (BOR) syndrome in an East Asian population. STUDY DESIGN: Prospective clinical genetic study. METHODS: Twelve families (total of 18 patients) who fulfilled the criteria for BOR syndrome were enrolled in this study. Mutation screening of the EYA1, SIX1, and SIX5 genes was performed by direct sequencing and quantitative polymerase...

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Source

Identifiers

PMID: 22447252
DOI: 10.1002/lary.23217

Genes

EYA1
SIX1
SIX5

Variants

Provenance

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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