Molecular Genetic Causes and Clinical Description of Branchio-Oto-renal Syndrome
Abstract
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by a combination of hearing impairment with preauricular pits, cervical fistulas or cysts, and various renal abnormalities. Mutations in the EYA1 gene are responsible for 40% of BOR syndrome cases. This study for the first time demonstrates a detailed clinical description and molecular genetic study of BOR syndrome in the Russian Federation among eight Russian...
Paper Details
Title
Molecular Genetic Causes and Clinical Description of Branchio-Oto-renal Syndrome
Published Date
May 1, 2019
Journal
Volume
55
Issue
5
Pages
630 - 638
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