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Pelger-Huet Anomaly

"Pelger-Huet Anomaly" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

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Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.


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This graph shows the total number of publications written about "Pelger-Huet Anomaly" by people in UAMS Profiles by year, and whether "Pelger-Huet Anomaly" was a major or minor topic of these publications.
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