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

Department of Clinical Genetics, H.C. Andersen Children’s Hospital, Odense University Hospital, Odense, Denmark, MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, University of Southampton, Southampton, UK and Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand Correspondence to Anne B. Krøigård, MD, PhD, Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, DK-5000 Odense C, Denmark Tel: + 45 654 119 73; fax: + 45 654 148 75; e-mail: [email protected]