Article
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).
Nature genetics - 1 Aug 2002
Hoffmann Katrin, Dreger Christine K, Olins Ada L, Olins Donald E, Shultz Leonard D, Lucke Barbara, Karl Hartmut, Kaps Reinhard, Müller Dietmar, Vayá Amparo, Aznar Justo, Ware Russell E, Sotelo Cruz Norberto, Lindner Tom H, Herrmann Harald, Reis André, Sperling Karl
Abstract excerpt
Pelger-Huët anomaly (PHA; OMIM *169400) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes. Affected individuals show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy and skeletal abnormalities. Homozygous offspring...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.