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

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 chromosomal region 8q...

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Detalles Bibliográficos
Autores principales: Lindau, Tâmara Andrade, Cardoso, Ana Cláudia Vieira, Rossi, Natalia Freitas, Giacheti, Célia Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Publicações Ltda 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296951/
https://www.ncbi.nlm.nih.gov/pubmed/25992067
http://dx.doi.org/10.1055/s-0033-1358659

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296951/
https://www.ncbi.nlm.nih.gov/pubmed/25992067
http://dx.doi.org/10.1055/s-0033-1358659

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