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Article

[Clinical phenotypic and genetic analysis of syndrome families with EYA1 gene variants].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Jul 2024

Shao Hua, Li Yonghua, Zhao Heng, Lin Ken, Gao Yan, Ming Cheng, Ma Jing

Abstract excerpt

Objective:To investigate the clinical phenotype of a family with branchio-oto syndrome （BOS） and to explore the genetic etiology of the syndrome in this family. Methods:Clinical data were collected from a child diagnosed with BOS and his family members. Genomic DNA was extracted from peripheral blood of the proband and his family members. Whole-exome sequencing was performed, and the mutation sites were verified...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38973045
DOI: 10.13201/j.issn.2096-7993.2024.07.015
PMCID: PMC11599954

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