Article

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

American journal of human genetics - 3 Jul 2014

Stray-Pedersen Asbjørg, Backe Paul H, Sorte Hanne S, Mørkrid Lars, Chokshi Niti Y, Erichsen Hans Christian, Gambin Tomasz, Elgstøen Katja B P, Bjørås Magnar, Wlodarski Marcin W, Krüger Marcus, Jhangiani Shalini N, Muzny Donna M, Patel Ankita, Raymond Kimiyo M, Sasa Ghadir S, Krance Robert A, Martinez Caridad A, Abraham Shirley M, Speckmann Carsten, Ehl Stephan, Hall Patricia, Forbes Lisa R, Merckoll Else, Westvik Jostein, Nishimura Gen, Rustad Cecilie F, Abrahamsen Tore G, Rønnestad Arild, Osnes Liv T, Egeland Torstein, Rødningen Olaug K, Beck Christine R, Boerwinkle Eric A, Gibbs Richard A, Lupski James R, Orange Jordan S, Lausch Ekkehart, Hanson I Celine