KLF1 variants identified in neonate with severe hemolytic anemia and pulmonary hypertension
Genetic testing helps identify a rare cause of severe anemia
This case report and literature review describes a neonate with unexplained Coombs/DAT-negative severe hemolytic anemia, pulmonary hypertens…
A rare genetic variant in the KLF1 gene can cause severe anemia and lung issues in newborns, making early testing vital for accurate diagnos…
Loss-of-function ABCG5/ABCG8 mutations firmly establish sitosterolemia etiology in systematic review
Genetic Mutations Behind Rare Cholesterol Disorder Identified
This systematic review synthesizes the molecular genetic architecture of sitosterolemia, confirming that loss-of-function mutations in ABCG5…
A new review reveals the genetic causes of sitosterolemia, a rare condition causing high plant sterols and early heart disease.