Associated Papers
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.
Giorgio E et al.
American Journal of Medical Genetics. Part A, 2019
Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism.
Turner EM et al.
Rare Diseases (austin, Tex.), 2016
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
Borovik L et al.
American Journal of Medical Genetics. Part A, 2013
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