Confirmation of defective cholesterol biosynthesis in 2 previously described adult sibs with Smith-Lemli-Opitz syndrome.
De Die-Smulders
C
C
Van de Meer
S
S
Spaapen
L
L
Fryns
J P
JP
D000328:Adult; D002784:Cholesterol / Q000096:biosynthesis*; D006801:Humans; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics*
D002784:Cholesterol