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Article

[Novel duplication mutation of EYA1 causes branchio-oto-renal syndrome in a Chinese family].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Jul 2021

Li Jun, Zhao Peiwei, Xia Zhijie, Yao Wei, Wei Youhua, Hao Lili, Xia Zhongfan, He Xuelian

Abstract excerpt

Objective:To identify novel genetic causes of branchio-oto-renal （BOR） syndrome in a Chinese family. Methods:Clinical characteristics and treatment of a family with a BOR syndrome were retrospectively analyzed. Genetic analysis was conducted by trio whole exome sequencing （WES） and the duplicated exons were verified by fluorescence quantitative PCR （real-time PCR）. Results: In this family, the affected individual...

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Identifiers

PMID: 34304489
DOI: 10.13201/j.issn.2096-7993.2021.07.007
PMCID: PMC10127898

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