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Title
Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy
Authors
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
Publication
Journal of Medical Genetics (JMG), 2012, Vol 49, Issue 1, p37