PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia - Christine R. Beck; Ghadir S. Sasa; Else Merckoll; James R. Lupski; Carsten Speckmann; Caridad Martinez; Magnar Bjørås; Hanne Sørmo Sorte; Asbjørg Stray-Pedersen; Tore G. Abrahamsen; Lisa R. Forbes; Katja Benedikte Prestø Elgstøen; et al. (The American Journal of Human Genetics, 2014)
Keywords: Bone Diseases, Developmental; Congenital Disorders of Glycosylation; Female; Genetics; Genetics(clinical); Humans; Immunologic Deficiency Syndromes; Male; Mutation; Pedigree; Phosphoglucomutase