Condition: HEM dysplasia


rs587777171 in LBR gene and HEM dysplasia PMID 21327084 2012 Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.

PMID 27336722 2016 The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.

PMID 12618959 2003 Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.

PMID 27830109 2016 Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism.

PMID 18382993 2008 The tentative diagnosis of Greenberg skeletal dysplasia based on pathological findings was confirmed by the identification of a homozygous, N547D amino acid substitution in the LBR gene in the third affected fetus.