How to cite this article: Nowaczyk MJM, Cunniff C. 2012. Smith–Lemli–Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction. Am J Med Genet Part C Semin Med Genet 160C: 239–241.
Smith–Lemli–Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction†
Article first published online: 5 OCT 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Synthesis
Volume 160C, Issue 4, pages 239–241, 15 November 2012
How to Cite
Nowaczyk, M. J.M. and Cunniff, C. (2012), Smith–Lemli–Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction. Am. J. Med. Genet., 160C: 239–241. doi: 10.1002/ajmg.c.31344
- Issue published online: 22 OCT 2012
- Article first published online: 5 OCT 2012
This issue of Seminars of Medical Genetics features a series of articles on Smith–Lemli–Opitz syndrome and other disorders of endogenous cholesterol synthesis. Clinically, many of these disorders have been known for decades, but only in the last 20 years have the molecular genetic and enzymatic defects underlying these disorders been delineated. As a group, disorders of cholesterol synthesis are relatively common and contribute significantly to the burden of human disease. Leading experts in their fields present clinical, behavioral, molecular, and therapeutic aspects of these disorders. © 2012 Wiley Periodicals, Inc.