Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation

BACKGROUND: Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial, ear, and renal anomalies. The most common gene mutated in BOR patients is EYA1, the human homolog of the Drosophila eyes absent gene, while mutations in SIX1 gene, the human homolog of sine oc...

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Main Authors: Gigante, Maddalena, d’Altilia, Marilena, Montemurno, Eustacchio, Diella, Sterpeta, Bruno, Francesca, Netti, Giuseppe S, Ranieri, Elena, Stallone, Giovanni, Infante, Barbara, Grandaliano, Giuseppe, Gesualdo, Loreto
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2013
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3610161/
https://ncbi.nlm.nih.gov/pubmed/23506628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-14-60
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