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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Society of Otorhinolaryngology-Head and Neck Surgery 2019
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315218/ https://www.ncbi.nlm.nih.gov/pubmed/30086623 http://dx.doi.org/10.21053/ceo.2018.00213

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