Two Compound Heterozygous Were Identified in SLC26A4 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...

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Detalhes bibliográficos
Publicado no:Clin Exp Otorhinolaryngol
Main Authors: Yu, Yongbo, Yang, Yang, Lu, Jie, Jin, Yaqiong, Yang, Yeran, Hong, Enyu, Shi, Jin, Chen, Feng, Han, Shujing, Chu, Ping, Guo, Yongli, Ni, Xin
Formato: Artigo
Idioma:Inglês
Publicado em: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2019
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6315218/
https://ncbi.nlm.nih.gov/pubmed/30086623
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21053/ceo.2018.00213
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