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

Cover image for Vol. 160C Issue 3

Special Issue: New Topics in the Skeletal Dysplasias

15 August 2012

Volume 160C, Issue 3

Pages 143–237

Issue edited by: Sheila Unger, Luisa Bonafé, Andrea Superti-Furga

  1. Introduction

    1. Top of page
    2. Introduction
    3. Articles
    1. New topics in the skeletal dysplasias (pages 143–144)

      Sheila Unger, Luisa Bonafé and Andrea Superti-Furga

      Version of Record online: 12 JUL 2012 | DOI: 10.1002/ajmg.c.31338

  2. Articles

    1. Top of page
    2. Introduction
    3. Articles
    1. Enchondromatosis revisited: New classification with molecular basis (pages 154–164)

      Andrea Superti-Furga, Jürgen Spranger and Gen Nishimura

      Version of Record online: 12 JUL 2012 | DOI: 10.1002/ajmg.c.31331

    2. Ciliary disorder of the skeleton (pages 165–174)

      Celine Huber and Valerie Cormier-Daire

      Version of Record online: 12 JUL 2012 | DOI: 10.1002/ajmg.c.31336

    3. TRPV4-associated skeletal dysplasias (pages 190–204)

      Gen Nishimura, Ekkehart Lausch, Ravi Savarirayan, Masahiro Shiba, Juergen Spranger, Bernhard Zabel, Shiro Ikegawa, Andrea Superti-Furga and Sheila Unger

      Version of Record online: 12 JUL 2012 | DOI: 10.1002/ajmg.c.31335

    4. Mutation-based growth charts for SEDC and other COL2A1 related dysplasias (pages 205–216)

      Paulien A. Terhal, Paula van Dommelen, Martine Le Merrer, Andreas Zankl, Marleen E.H. Simon, Sarah F. Smithson, Carlo Marcelis, Bronwyn Kerr, Esther Kinning, Sahar Mansour, Raoul C.M. Hennekam, Annemarie H. van der Hout, Valerie Cormier-Daire, Allan M. Lund, Linda Goodwin, André Mégarbané, Melissa Lees, Regina C. Betz, Edward S. Tobias, Paul Coucke and Geert R. Mortier

      Version of Record online: 12 JUL 2012 | DOI: 10.1002/ajmg.c.31332

    5. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals (pages 217–229)

      Nuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, Cynthia F. Bartels, Beyhan Tuysuz, Yasemin Alanay, Rolando Cimaz, Valerie Cormier-Daire, Maja Di Rocco, Hans-Christoph Duba, Nursel H. Elcioglu, Francesca Forzano, Toni Hospach, Esra Kilic, Jasmin B. Kuemmerle-Deschner, Geert Mortier, Sonja Mrusek, Sheela Nampoothiri, Ewa Obersztyn, Richard M. Pauli, Angelo Selicorni, Romano Tenconi, Sheila Unger, G. Eda Utine, Michael Wright, Bernhard Zabel, Matthew L. Warman, Andrea Superti-Furga and PD Dr. Luisa Bonafé

      Version of Record online: 12 JUL 2012 | DOI: 10.1002/ajmg.c.31333

    6. Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia (pages 230–237)

      Marleen Simon, Ana Belinda Campos-Xavier, Lauréane Mittaz-Crettol, Eugenia Ribeiro Valadares, Daniel Carvalho, Carlos Eduardo Speck-Martins, Sheela Nampoothiri, Yasemin Alanay, Ercan Mihci, Yolande van Bever, Nuria Garcia-Segarra, Denise Cavalcanti, Geert Mortier, Luisa Bonafé and Andrea Superti-Furga

      Version of Record online: 12 JUL 2012 | DOI: 10.1002/ajmg.c.31339

SEARCH

SEARCH BY CITATION