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A novel mutation of the EYA1 gene in a branchio-otic syndrome child with secretory otitis media and bilateral vestibular weakness

2023-02-08

Abstract excerpt

<title>Abstract</title><p>Objective To investigate the phenotypic manifestations and molecular etiology of branchio-otic syndrome (BOS) in a Chinese family. Methods We recruited two generations of a Chinese family with BOS. Family history was obtained and detailed physical and hearing examinations were performed on all family members. Whole-exome sequencing (WES) was used to screen the candidate disease genes usin...

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Literature Corpus work
37f09c3d-3381-54a1-8557-f9d6889465dc
DOI
10.21203/rs.3.rs-2553494/v1
Open publication

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A novel mutation of the EYA1 gene in a branchio-otic syndrome child with secretory otitis media and bilateral vestibular weaknessDOI 10.21203/rs.3.rs-2553494/v1
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