MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT
Johannes Münch(Charité - Universitätsmedizin Berlin), Jan Halbritter(Humboldt-Universität zu Berlin), Marie Engesser(Leipzig University), Tara Wegner(University of Washington), Toshihiko Shirakawa(Nagasaki University Hospital), J. Austin Hamm(East Tennessee Children's Hospital), Laura R. Claus(University Medical Center Utrecht), Florence Petit(Centre Hospitalier Universitaire de Lille), Carsten Bergmann(University Medical Center Freiburg), Sumito Dateki(Nagasaki University), Gregory J. Pazour(University of Massachusetts Chan Medical School), Beyhan Tüysüz(Istanbul University-Cerrahpaşa), Bernt Popp(Berlin Institute of Health at Charité - Universitätsmedizin Berlin), Andrew A. McCarthy(European Molecular Biology Laboratory), Albertien M. van Eerde(Hospital Reina Sofía de Murcia), Ria Schönauer(Charité - Universitätsmedizin Berlin), Jillian G. Buchan(University of Washington), Timo Wagner, Cecilia W. Lo(University of Pittsburgh), James R. Lupski(Baylor College of Medicine), Gülsen Akay, Jennifer E. Posey(Baylor College of Medicine)
Cited by 0
Related Papers
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
|New England Journal of Medicine|2013|2k
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy
|Nature Genetics|1997|1.4k
Mutation of the Stargardt Disease Gene ( <i>ABCR</i> ) in Age-Related Macular Degeneration
|Science|1997|878
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
|New England Journal of Medicine|2016|774