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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...
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| Publicat a: | Int Arch Otorhinolaryngol |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Thieme Publicações Ltda
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4296951/ https://ncbi.nlm.nih.gov/pubmed/25992067 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0033-1358659 |
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