"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.
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.
| Descriptor ID |
D010381
|
| MeSH Number(s) |
C15.378.553.696 C16.320.784
|
| Concept/Terms |
Pelger-Huet Anomaly- Pelger-Huet Anomaly
- Anomaly, Pelger-Huet
- Pelger Huet Anomaly
- Pelger-Huët Nuclear Anomaly
- Anomaly, Pelger-Huët Nuclear
- Nuclear Anomaly, Pelger-Huët
- Pelger Huët Nuclear Anomaly
- Pelger-Huët Anomaly
- Anomaly, Pelger-Huët
- Pelger Huët Anomaly
- Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities
- Pelger-Huet Nuclear Anomaly
- Anomaly, Pelger-Huet Nuclear
- Nuclear Anomaly, Pelger-Huet
- Pelger Huet Nuclear Anomaly
Pseudo Pelger-Huet Anomaly- Pseudo Pelger-Huet Anomaly
- Anomaly, Pseudo Pelger-Huet
- Pelger-Huet Anomaly, Pseudo
- Pseudo Pelger Huet Anomaly
- Pseudo Pelger-Huët Anomaly
- Anomaly, Pseudo Pelger-Huët
- Pelger-Huët Anomaly, Pseudo
- Pseudo Pelger Huët Anomaly
- Pseudo Pelger-Huet Nuclear Anomaly
- Pseudo Pelger Huet Nuclear Anomaly
|
Below are MeSH descriptors whose meaning is more general than "Pelger-Huet Anomaly".
Below are MeSH descriptors whose meaning is more specific than "Pelger-Huet Anomaly".
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Pelger-Huet Anomaly" by people in Profiles.