Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. Issue 2 (April 2016) - Krøigård, Anne B.; Jackson, Andrew P.; Bicknell, Louise S.; Baple, Emma; Brusgaard, Klaus; Hansen, Lars K.; Ousager, Lilian B.