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Smith–Lemli–Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction

Authors

  • Małgorzata J.M. Nowaczyk,

    Corresponding author
    1. Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    • Department of Pathology and Molecular Medicine and Department of Pediatrics, McMaster University McMaster University Medical Centre, Room 3N16, 1200 Main Street West, Hamilton, ON, Canada L8S 4J9.
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  • Christopher Cunniff

    1. Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona
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  • 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.

Abstract

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.

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