Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy
Losekoot, M., Ruivenkamp, C. A. L., Tholens, A. P., Grimbergen, J. E. M. A., Vijfhuizen, L., Vermeer, S., Dijkman, H. B., Cornelissen, E. A. M., Bongers, E. M. H. F., Peters, D. J. M.Volume:
49
Language:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2011-100452
Date:
January, 2012
File:
PDF, 553 KB
english, 2012