RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis.
Kelley
R I
RI
D000818:Animals; D002784:Cholesterol / Q000378:metabolism*; D006801:Humans; D009024:Morphogenesis; D010088:Oxidoreductases / Q000235:genetics; D044925:Oxidoreductases Acting on CH-CH Group Donors; D019082:Smith-Lemli-Opitz Syndrome / Q000201:enzymology / Q000235:genetics*
D002784:Cholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase