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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.

MeSH information
Definition  |  Details  |  More General Concepts  |  Related Concepts  |  More Specific Concepts
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.


publications
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This graph shows the total number of publications written about "Pelger-Huet Anomaly" by people in Harvard Catalyst Profiles by year, and whether "Pelger-Huet Anomaly" was a major or minor topic of these publication.
Bar chart showing 1 publications over 1 distinct years, with a maximum of 1 publications in 2022
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.