Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
Am J Hum Genet. 2001 Oct;69(4):685-94. doi: 10.1086/323473. Epub 2001 Aug 22.
Am J Hum Genet. 2001.
PMID: 11519011
Free PMC article.