Confirmation of defective cholesterol biosynthesis in 2 previously described adult sibs with Smith-Lemli-Opitz syndrome

Genet Couns. 1996;7(2):161-2.

Authors

C De Die-Smulders, S Van de Meer, L Spaapen, J P Fryns

PMID: 8831138

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Cholesterol / biosynthesis*
Humans
Smith-Lemli-Opitz Syndrome / genetics*

Substances

Cholesterol