Article
Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.
BMC nephrology - 18 Mar 2013
Gigante Maddalena, d'Altilia Marilena, Montemurno Eustacchio, Diella Sterpeta, Bruno Francesca, Netti Giuseppe S, Ranieri Elena, Stallone Giovanni, Infante Barbara, Grandaliano Giuseppe, Gesualdo Loreto
Abstract excerpt
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 oculis, encoding a DNA binding protein interacting with EYA1, have been reported less frequently. Recently, mutations...
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