Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene

✍ Scribed by 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

• Book ID: 117854174
• Publisher: American Society of Human Genetics
• Year: 2003
• Tongue: English
• Weight: 256 KB
• Volume: 72
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1086/373938