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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Thieme Publicações Ltda
2013
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| Materias: | |
| 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 |