Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

Krøigård, A. B., Jackson, A. P., Bicknell, L. S., Baple, E., Brusgaard, K., Hansen, L. K., & Ousager, L. B. (2016). Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. Clinical Dysmorphology, 25(2), 68–72. https://doi.org/10.1097/MCD.0000000000000110