Waterham HR, Koster J, Mooyer P, Noort Gv G, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC

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.

Am J Hum Genet 72:1013-7 (2003)
DOI:10.1086/373938

Tsai PL, Zhao C, Turner E, Schlieker C

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

Elife 5:e16011 (2016)
DOI:10.7554/eLife.16011

Gaudy-Marqueste C, Roll P, Esteves-Vieira V, Weiller PJ, Grob JJ, Cau P, Levy N, De Sandre-Giovannoli A

LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.

J Med Genet 47:361-70 (2010)
DOI:10.1136/jmg.2009.071696

Borovik L, Modaff P, Waterham HR, Krentz AD, Pauli RM

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.

Am J Med Genet A 161A:2066-73 (2013)
DOI:10.1002/ajmg.a.36019