Malformation syndromes due to inborn errors of cholesterol synthesis.
Porter
Forbes D
FD
Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA. fdporter@helix.nih.gov
D000015:Abnormalities, Multiple / Q000235:genetics / Q000378:metabolism; D002490:Central Nervous System / Q000378:metabolism; D002784:Cholesterol / Q000096:biosynthesis*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics; D015394:Molecular Structure; D013577:Syndrome
D002784:Cholesterol