DHCR7 and Smith-Lemli-Opitz syndrome.
Nowaczyk
M J
MJ
Department of Pathology and Molecular Medicine, McMaster University and Hamilton Regional Laboratory Medicine Program, Ont. nowaczyk@hhsc.ca
Nakamura
L M
LM
Waye
J S
JS
D002675:Child, Preschool; D002784:Cholesterol / Q000096:biosynthesis; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D009154:Mutation; D010088:Oxidoreductases / Q000172:deficiency / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010641:Phenotype; D011296:Prenatal Diagnosis; D019082:Smith-Lemli-Opitz Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy
D002784:Cholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase