Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene


Hans R. Waterham,Janet Koster,Petra Mooyer,Gerard van Noort,Richard I. Kelley,William R. Wilcox,J.A. Ronald Wanders,C.M. Raoul Hennekam,C. Jan Oosterwijk


The American Journal of Human Genetics




April 2003

Copyright © 2003, Elsevier

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