OHSU

Smith-Lemli-Opitz syndrome

Links to reputable resources widely used in the genetics community provide disease information.  Many of these resources are edited or authored by our investigators.

 

Learn more about Smith-Lemli-Opitz syndrome (SLOS)  from the following resources:

GeneReviews: SLOS

Genetics Home Reference: SLOS

 

Rare disorders investigators studying this disorder include:

Robert D. Steiner, MD

 

Key publications by members of the research consortium:

Pappu AS, Connor WE, Merkens LM, Jordan JM, Penfield JA, Illingworth DR, Steiner RD, Increased non-sterol isoprenoids, dolichol and ubiquionone in the Smith-Lemli-Opitz Syndrome: effects of dietary cholesterol.  J. Lipid Res. 47:2789-2798, 2006.

Sikora DM, Pettit-Kekel K, Penfield J, Merkens L, Steiner RD, The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.  Am J Med Genet A. 140A:1511-1518, 2006.

Family and Medical Conference

The next conference is tentatively scheduled for Boston, MA, Summer 2009.

SLOS