Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review

Abstract Introduction Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at...

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Bibliographic Details
Main Authors: Tâmara Andrade Lindau, Ana Cláudia Vieira Cardoso, Natalia Freitas Rossi, Célia Maria Giacheti
Format: Article
Language:English
Published: Thieme Revinter Publicações Ltda. 2014-01-01
Series:International Archives of Otorhinolaryngology
Subjects:
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0033-1358659