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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3610161/
https://www.ncbi.nlm.nih.gov/pubmed/23506628
http://dx.doi.org/10.1186/1471-2369-14-60

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3610161/
https://www.ncbi.nlm.nih.gov/pubmed/23506628
http://dx.doi.org/10.1186/1471-2369-14-60

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