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[Identification and genetic analysis of new mutations in EYA1 gene of BOS syndrome].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 7 Sept 2021

Ma J, Huang R, Ma X L, Li X, Zhang T S, Ruan B

Abstract excerpt

Objective: To analyze the clinical manifestations of a patient with branchiootic syndrome(BOS) and her families and to carry out genetic testing in order to specify the biological pathogenesis. Methods: Clinical data of the patient and her families were collected. Genomic DNA in the peripheral blood of the proband and her family members was extracted. All exons of 406 deafness-related susceptible genes as well as...

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Identifiers

PMID: 34666446
DOI: 10.3760/cma.j.cn115330-20210126-00040

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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