Research Publications about SLO

SLOF Library of Information

A listing of publications citing Smith-Lemli-Opitz by research professionals and health organizations.

Published SLO Research & Disease Information

Click on each title to read more and access links to more information.

SLOS is caused by mutations in DHCR7 on chromosome 11  (Fitzky et al., 1998, Wassif et al., 1998, Waterham et al., 1998), which encodes for 7-dehydrocholesterol reductase (DHCR7), an enzyme that catalyzes the final step in cholesterol biosynthesis (Irons et al., 1993).

IRONS, M., ELIAS, E. R., SALEN, G., TINT, G. S. & BATTA, A. K. 1993. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet, 341, 1414.


FITZKY, B. U., WITSCH-BAUMGARTNER, M., ERDEL, M., LEE, J. N., PAIK, Y. K., GLOSSMANN, H., UTERMANN, G. & MOEBIUS, F. F. 1998. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci U S A, 95, 8181-6.

*The DOI below sends to the general Proc Natl Acad Sci (PNAS) page. Not sure if you would just want to list this or I have this NCBI overview that has a PDF of it listed. Link:


WASSIF, C. A., MASLEN, C., KACHILELE-LINJEWILE, S., LIN, D., LINCK, L. M., CONNOR, W. E., STEINER, R. D. & PORTER, F. D. 1998. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet, 63, 55-62.


WATERHAM, H. R., WIJBURG, F. A., HENNEKAM, R. C., VREKEN, P., POLL-THE, B. T., DORLAND, L., DURAN, M., JIRA, P. E., SMEITINK, J. A., WEVERS, R. A. & WANDERS, R. J. 1998. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet, 63, 329-38.