Associated Papers
Novel lamin B receptor mutation (c.561C > G) in a patient with Pelger-Huët anomaly: a case report.
Yin J et al.
Frontiers in Pediatrics, 2025
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
Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7.
Zwerger M et al.
Molecular Biology of the Cell, 2010
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).
Hoffmann K et al.
Nature Genetics, 2002
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