Two Compound Heterozygous Were Identified in Gene in Two Chinese Families With Enlarged Vestibular Aqueduct

Two Compound Heterozygous Were Identified in Gene in Two Chinese Families With Enlarged Vestibular Aqueduct

Objectives To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. Methods Sanger sequencing of all coding exons in SLC26A4 (encoding Pendrin protein) was performed on the two patients, their sibling and parents r...

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Bibliographic Details
Main Authors: Yongbo Yu, Yang Yang, Jie Lu, Yaqiong Jin, Yeran Yang, Enyu Hong, Jin Shi, Feng Chen, Shujing Han, Ping Chu, Yongli Guo, Xin Ni
Format: Article
Language:English
Published: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2019-02-01
Series:Clinical and Experimental Otorhinolaryngology
Subjects:
Hearing Loss
Vestibular Aqueduct
SLC26A4 Protein
Frameshift Mutation
Online Access:http://www.e-ceo.org/upload/pdf/ceo-2018-00213.pdf

Internet

http://www.e-ceo.org/upload/pdf/ceo-2018-00213.pdf

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