PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
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author: Tomasz Gambin, Magnar Bjørås, Patricia Hall, Stephan Ehl, Carsten Speckmann, Marcin W Wlodarski, Jordan S. Orange, James R. Lupski, Tore G Abrahamsen, Richard Gibbs, Donna Muzny, Shalini Jhangiani, Ankita Patel, Eric Boerwinkle, Gen Nishimura, Arild Rønnestad, Hanne S Sorte, Asbjørg Stray-Pedersen, Paul H Backe, Katja B Prestø Elgstøen
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