present in Gene: LBR
present in Chromosome: 1
Position on Chromosome: 225404452
Alleles of this Variant: T/C
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.