PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

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

doi:10.1016/j.ajhg.2014.05.007

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

Asbjørg Stray‐Pedersen(Oslo University Hospital), Paul Hoff Backe(Oslo University Hospital), Hanne Sørmo Sorte(Oslo University Hospital), Lars Mørkrid(Oslo University Hospital), Niti Chokshi(Baylor College of Medicine), Hans Christian Erichsen(Oslo University Hospital), Tomasz Gambin(Baylor College of Medicine), Katja Benedikte Prestø Elgstøen(Oslo University Hospital), Magnar Bjørås(Oslo University Hospital), Marcin W. Włodarski(University Medical Center Freiburg), Marcus Krüger(University Medical Center Freiburg), Shalini N. Jhangiani(Baylor College of Medicine), Donna M. Muzny(Baylor College of Medicine), Ankita Patel(Baylor College of Medicine), Kimiyo Raymond(Mayo Clinic), Ghadir Sasa(Baylor College of Medicine), Robert A. Krance(Baylor College of Medicine), Caridad Martinez(Baylor College of Medicine), Shirley Abraham(University of New Mexico), Carsten Speckmann(University Medical Center Freiburg), Stephan Ehl(University Medical Center Freiburg), Patricia Hall(Emory University), Lisa R. Forbes(Baylor College of Medicine), Else Merckoll(Oslo University Hospital), Jostein Westvik(Oslo University Hospital), Gen Nishimura(Tokyo Metropolitan Children's Medical Center), Cecilie F. Rustad(Oslo University Hospital), Tore G. Abrahamsen(Oslo University Hospital), Arild Rønnestad(Oslo University Hospital), Liv Osnes(Oslo University Hospital), Torstein Egeland(Oslo University Hospital), Olaug K. Rødningen(Oslo University Hospital), Christine R. Beck(Baylor College of Medicine), Eric Boerwinkle(Baylor College of Medicine), Richard A. Gibbs(Baylor College of Medicine), James R. Lupski(Baylor College of Medicine), Jordan S. Orange(Baylor College of Medicine), Ekkehart Lausch(University Medical Center Freiburg), I. Celine Hanson(Baylor College of Medicine)

The American Journal of Human Genetics

June 12, 2014

10.1016/j.ajhg.2014.05.007

Cited by 179Open Access

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