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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Copyright © 2012 Wiley-Liss, Inc., A Wiley Company

Cover image for Vol. 160C Issue 4

Special Issue: Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Synthesis

15 November 2012

Volume 160C, Issue 4

Pages 239–328

Issue edited by: Małgorzata J.M. Nowaczyk, Christopher Cunniff

  1. Introduction

    1. Top of page
    2. Introduction
    3. Articles
    1. Smith–Lemli–Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction (pages 239–241)

      Małgorzata J.M. Nowaczyk and Christopher Cunniff

      Article first published online: 5 OCT 2012 | DOI: 10.1002/ajmg.c.31344

  2. Articles

    1. Top of page
    2. Introduction
    3. Articles
    1. The RSH/“Smith–Lemli–Opitz” Syndrome: Historical footnote (pages 242–249)

      John M. Opitz and Larissa V. Furtado

      Article first published online: 11 OCT 2012 | DOI: 10.1002/ajmg.c.31341

    2. Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology (pages 250–262)

      Małgorzata J.M. Nowaczyk and Mira B. Irons

      Article first published online: 11 OCT 2012 | DOI: 10.1002/ajmg.c.31343

    3. Mutational spectrum of Smith–Lemli–Opitz syndrome (pages 263–284)

      Hans R. Waterham and Raoul C.M. Hennekam

      Article first published online: 5 OCT 2012 | DOI: 10.1002/ajmg.c.31346

    4. Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders (pages 285–294)

      Melissa D. Svoboda, Jill M. Christie, Yasemen Eroglu, Kurt A. Freeman and Robert D. Steiner

      Article first published online: 5 OCT 2012 | DOI: 10.1002/ajmg.c.31347

    5. Cognitive and behavioral aspects of Smith–Lemli–Opitz syndrome (pages 295–300)

      Andrea Diaz-Stransky and Elaine Tierney

      Article first published online: 5 OCT 2012 | DOI: 10.1002/ajmg.c.31342

    6. Disorders of sterol synthesis: Beyond Smith–Lemli–Opitz syndrome (pages 301–321)

      Gail E. Herman and Lisa Kratz

      Article first published online: 5 OCT 2012 | DOI: 10.1002/ajmg.c.31340

    7. Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation (pages 322–328)

      Lynne A. Wolfe, Eva Morava, Miao He, Jerry Vockley and K. Michael Gibson

      Article first published online: 11 OCT 2012 | DOI: 10.1002/ajmg.c.31345

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