Skip to main content


Section Edited by Roser Torra

The Genetics section considers both interventional and non-interventional clinical research studies, including controlled trials, case control studies, and basic experimental research. This section does not consider large epidemiological studies, or case reports. Systematic reviews and meta-analyses should be directed to the Epidemiology and Health Outcomes section, and case reports should be directed to our dedicated Case Reports section. 

Page 2 of 2

  1. 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 ...

    Authors: Maddalena Gigante, Marilena d’Altilia, Eustacchio Montemurno, Sterpeta Diella, Francesca Bruno, Giuseppe S Netti, Elena Ranieri, Giovanni Stallone, Barbara Infante, Giuseppe Grandaliano and Loreto Gesualdo

    Citation: BMC Nephrology 2013 14:60

    Content type: Case report

    Published on:

2018 Journal Metrics