Assertion: pelger huet anomaly | /r/RelatedTo | defect
Facets:
value: in cholesterol synthesis
type: OTHER
Source sentences:
text: Research also suggests that Pelger-Huet anomaly and HEM skeletal dysplasia (Greenberg dysplasia) are related to a defect in cholesterol synthesis, resulting from LBR point mutations that cause a loss of sterol C14 reductase activity associated with the LBR protein.