Publication | Open Access

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

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseasePathologyDegenerative DiseaseMolecular GeneticsDisease Gene IdentificationMedicine