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

2003/04/01 by Hans R. Waterham, Janet Koster, P. A. W. Mooyer +9 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Cholesterol and Lipid Metabolism #Lipid metabolism and biosynthesis #Nuclear Structure and Function

paper · pdf · doi:10.1086/373938

crossref issued 2003/04/01 · crossref published 2003/04/01 · crossref published-print 2003/04/01 · openalex publication_date 2003/04/01 · crossref created 2003/04/23 · openalex created_date 2016/06/24 · crossref deposited 2021/06/06 · crossref indexed 2026/07/31 · openalex updated_date 2026/08/01

Citations

• A new autosomal recessive lethal chondrodystrophy with congenital hydrops
• Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger–Huët anomaly)

Cited by

• Laminopathy [wikipedia]