Pelger-Huet Anomaly [Pelgerova-Huëtova anomálie]
- Terms
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Pelgerova-Huetova anomálie
pseudo-Pelgerova-Huetova anomálie
pseudo-Pelgerova-Huëtova anomálie
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Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy, and Skeletal Abnormalities
Pelger-Huët Anomaly
Pelger-Huet Nuclear Anomaly
Pelger-Huët Nuclear Anomaly
Pseudo Pelger-Huet Anomaly
Pseudo Pelger-Huët Anomaly
Pseudo Pelger-Huet Nuclear Anomaly
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.
- Annotation
- in titles & translations, use diacritic: Huët
- DUI
- D010381 MeSH Browser
- CUI
- M0016097
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