Pelger-Huet anomaly
From BugSigDB
An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.
- Aliases
- ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities
- Pelger Huet anomaly
- Pelger-Huet Anomaly
- Pelger-Huet anomaly
- Pelger-Huet anomaly
- Pelger-Huet nuclear anomaly
- PHA
