Pelger-Huet anomaly

Definition:

Pelger-Huet anomaly is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes with skeletal abnormalities.

References:

[1]. Howard J Worman, et al. "Laminopathies": a wide spectrum of human diseases. Exp Cell Res. 2007 Jun 10;313(10):2121-33. [Content Brief]

[2]. J C Oosterwijk, et al. Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes. J Med Genet. 2003 Dec;40(12):937-41. [Content Brief]

[3]. Katrin Hoffmann, et al. The granulocyte nucleus and lamin B receptor: avoiding the ovoid. Chromosoma. 2007 Jun;116(3):227-35. [Content Brief]

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