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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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Dades bibliogràfiques
Publicat a:Int Arch Otorhinolaryngol
Autors principals: Lindau, Tâmara Andrade, Cardoso, Ana Cláudia Vieira, Rossi, Natalia Freitas, Giacheti, Célia Maria
Format: Artigo
Idioma:Inglês
Publicat: Thieme Publicações Ltda 2013
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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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