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There are 177684 results for: content related to: Disorders of sterol synthesis: Beyond Smith–Lemli–Opitz syndrome

  1. Mutations in the NSDHL gene, encoding a 3β-hydroxysteroid dehydrogenase, cause CHILD syndrome

    American Journal of Medical Genetics

    Volume 90, Issue 4, 14 February 2000, Pages: 339–346, Arne König, Rudolf Happle, Dorothea Bornholdt, Hartmut Engel and Karl-Heinz Grzeschik

    Version of Record online : 9 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5

  2. CHILD syndrome caused by deficiency of 3β-hydroxysteroid-Δ8, Δ7-isomerase

    American Journal of Medical Genetics

    Volume 90, Issue 4, 14 February 2000, Pages: 328–335, Dorothy K. Grange, Lisa E. Kratz, Nancy E. Braverman and Richard I. Kelley

    Version of Record online : 9 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

  3. Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 3, 15 October 2003, Pages: 246–251, Marybeth Hummel, David Cunningham, Charles J. Mullett, Richard I. Kelley and Gail E. Herman

    Version of Record online : 3 JUN 2003, DOI: 10.1002/ajmg.a.20248

  4. Mendelian Disorders of Cornification (MEDOC): The Ichthyoses

    Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

    Daniel Hohl, Mary Williams, Pages: 121.1–121.70, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch121

  5. Molecular genetics of the ichthyoses

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

    Volume 131C, Issue 1, 15 November 2004, Pages: 32–44, Gabriele Richard

    Version of Record online : 27 SEP 2004, DOI: 10.1002/ajmg.c.30032

  6. Reply to the letter to the editor by Happle et al.–“Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3β-hydroxysteroid-Δ87-isomerase”

    American Journal of Medical Genetics

    Volume 94, Issue 4, 2 October 2000, Pages: 342–343, Dorothy K. Grange and Richard I. Kelley

    Version of Record online : 13 OCT 2000, DOI: 10.1002/1096-8628(20001002)94:4<342::AID-AJMG15>3.0.CO;2-H

  7. Disorders of Keratinization

    Rook's Textbook of Dermatology, Seventh Edition

    M. R. Judge, W. H. I. McLean, C. S. Munro, Pages: 1619–1730, 2008

    Published Online : 4 FEB 2008, DOI: 10.1002/9780470750520.ch34

  8. Naevi and Other Developmental Defects

    Rook's Textbook of Dermatology, Seventh Edition

    D. J. Atherton, C. Moss, Pages: 569–682, 2008

    Published Online : 4 FEB 2008, DOI: 10.1002/9780470750520.ch15

  9. Pathogenesis-based therapies in ichthyoses

    Dermatologic Therapy

    Volume 26, Issue 1, January/February 2013, Pages: 46–54, Joey E. Lai-Cheong, Peter M. Elias and Amy S. Paller

    Version of Record online : 5 FEB 2013, DOI: 10.1111/j.1529-8019.2012.01528.x

  10. Inherited Disorders of Cornification

    Standard Article

    Rook's Textbook of Dermatology

    Vinzenz Oji, Dieter Metze and Heiko Traupe

    Published Online : 9 OCT 2016, DOI: 10.1002/9781118441213.rtd0066

  11. CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder

    Journal of the European Academy of Dermatology and Venereology

    Volume 24, Issue 6, June 2010, Pages: 733–736, GP Avgerinou, AP Asvesti, AD Katsambas, VA Nikolaou, EC Christofidou, KH Grzeschik and R Happle

    Version of Record online : 10 NOV 2009, DOI: 10.1111/j.1468-3083.2009.03483.x

  12. Behold the CHILD

    American Journal of Medical Genetics

    Volume 90, Issue 4, 14 February 2000, Pages: 336–338, John M. Opitz

    Version of Record online : 9 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000214)90:4<336::AID-AJMG14>3.0.CO;2-H

  13. You have full text access to this OnlineOpen article
    Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia

    British Journal of Dermatology

    Volume 173, Issue 1, July 2015, Pages: 304–307, A. Estapé, D. Josifova, D. Rampling, M. Glover and V.A. Kinsler

    Version of Record online : 28 MAY 2015, DOI: 10.1111/bjd.13636

  14. Conradi–Hünermann–Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects)

    British Journal of Dermatology

    Volume 166, Issue 6, June 2012, Pages: 1309–1313, A.W. Arnold, L. Bruckner-Tuderman, C. Has and R. Happle

    Version of Record online : 27 MAR 2012, DOI: 10.1111/j.1365-2133.2012.10808.x

  15. Embryonic left–right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3095–3114, Kun Ma

    Version of Record online : 29 OCT 2013, DOI: 10.1002/ajmg.a.36188

  16. Principles of Genetics, Mosaicism and Molecular Biology

    Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

    Alan D. Irvine, Peter H. Hoeger, Albert C. Yan, Pages: 115.1–115.29, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch115

  17. CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis

    Journal of Cutaneous Pathology

    Volume 41, Issue 10, October 2014, Pages: 787–790, Susanne Gantner, Arno Rütten, Luis Requena, Gerhard Gassenmaier, Michael Landthaler and Christian Hafner

    Version of Record online : 18 OCT 2014, DOI: 10.1111/cup.12377

  18. Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3β-hydroxysteroid-Δ8, Δ7-isomerase

    American Journal of Medical Genetics

    Volume 94, Issue 4, 2 October 2000, Page: 341, Rudolf Happle, Arne König and Karl-Heinz Grzeschik

    Version of Record online : 13 OCT 2000, DOI: 10.1002/1096-8628(20001002)94:4<341::AID-AJMG14>3.0.CO;2-N

  19. Disorders of Keratinization

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Meral J. Arin, Daniel Hohl, Dennis R. Roop, Pages: 1025–1068, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch24

  20. Epidermal Naevi

    Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

    Alan D. Irvine, Peter H. Hoeger, Albert C. Yan, Pages: 110.1–110.21, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch110