Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol.
Bzdúch
V
V
First Department of Pediatrics, University Children's Hospital, Bratislava, Slovakia.
Behúlová
D
D
Kozák
L
L
Skodová
J
J
Véghová
E
E
Dello Russo
A
A
Corso
G
G
Bauer
F
F
D002784:Cholesterol / Q000097:blood* / Q000172:deficiency; D000013:Congenital Abnormalities / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics; D044925:Oxidoreductases Acting on CH-CH Group Donors; D012150:Polymorphism, Restriction Fragment Length; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood* / Q000235:genetics
D002784:Cholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase