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There are 7239610 results for: content related to: A Novel X-Chromosomal Microdeletion Encompassing Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects

  1. 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

  2. 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

  3. CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation

    Pediatric Dermatology

    Volume 32, Issue 6, November/December 2015, Pages: e277–e282, Xiang-bin Mi, Miao-xuan Luo, Lin-lang Guo, Tang-de Zhang and Xian-wen Qiu

    Version of Record online : 13 OCT 2015, DOI: 10.1111/pde.12701

  4. 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

  5. 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

  6. 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

  7. Vitamin D deficiency and rickets in children and adolescents with ichthyosiform erythroderma in type IV and V skin

    British Journal of Dermatology

    Volume 166, Issue 3, March 2012, Pages: 608–615, K. Chouhan, G. Sethuraman, N. Gupta, V.K. Sharma, M. Kabra, B.K. Khaitan, V Sreenivas, M. Ramam, S. Kusumakar, S. Thulkar and A.S. Paller

    Version of Record online : 22 FEB 2012, DOI: 10.1111/j.1365-2133.2011.10672.x

  8. 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

  9. 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

  10. Ichthyosiform eruptions in association with primary cutaneous T-cell lymphomas

    British Journal of Dermatology

    Volume 161, Issue 1, July 2009, Pages: 115–120, S. Morizane, N. Setsu, T. Yamamoto, T. Hamada, G. Nakanishi, K. Asagoe and K. Iwatsuki

    Version of Record online : 26 MAR 2009, DOI: 10.1111/j.1365-2133.2009.09109.x

  11. Late Evolution of Giant Verruciform Xanthoma in the Setting of CHILD Syndrome

    Pediatric Dermatology

    Volume 27, Issue 5, September/October 2010, Pages: 551–553, MAZEN KURBAN, OSSAMA ABBAS, SAMER GHOSN and ABDUL-GHANI KIBBI

    Version of Record online : 26 AUG 2010, DOI: 10.1111/j.1525-1470.2010.01276.x

  12. Atypical ichthyosiform erythroderma, deafness and keratitis

    British Journal of Dermatology

    Volume 94, Issue 2, February 1976, Pages: 211–218, R.J.G. RYCROFT, E.J. MOYNAHAN and R.S. WELLS

    Version of Record online : 29 JUL 2006, DOI: 10.1111/j.1365-2133.1976.tb04372.x

  13. Multiple Verruciform Xanthomas in the Setting of Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Syndrome

    Pediatric Dermatology

    Volume 32, Issue 1, January/February 2015, Pages: 135–137, Xiu-Lian Xu, Li-Ming Huang, Qiang Wang and Jian-Fang Sun

    Version of Record online : 22 OCT 2013, DOI: 10.1111/pde.12198

  14. Care of the newborn with ichthyosis

    Dermatologic Therapy

    Volume 26, Issue 1, January/February 2013, Pages: 1–15, Jonathan A. Dyer, Mary Spraker and Mary Williams

    Version of Record online : 5 FEB 2013, DOI: 10.1111/j.1529-8019.2012.01555.x

  15. Ichthyosis bullosa of Siemens and bullous ichthyosiform erythroderma–variants of the same disease?

    Clinical and Experimental Dermatology

    Volume 15, Issue 1, January 1990, Pages: 53–56, M.E. MURDOCH and I.M. LEIGH

    Version of Record online : 27 APR 2006, DOI: 10.1111/j.1365-2230.1990.tb02021.x

  16. A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing

    British Journal of Dermatology

    Volume 159, Issue 5, November 2008, Pages: 1204–1206, M. Saito and A. Ishiko

    Version of Record online : 1 SEP 2008, DOI: 10.1111/j.1365-2133.2008.08800.x

  17. Cardio-Facio-Cutaneous Syndrome: Two Cases in the Same Generation

    The Journal of Dermatology

    Volume 32, Issue 11, November 2005, Pages: 909–913, Hideyuki Ikeda, Atsushi Hatamochi, Hiroshi Okita and Soji Yamazaki

    Version of Record online : 22 JUL 2014, DOI: 10.1111/j.1346-8138.2005.tb00870.x

  18. Clinico-epidemiological features of primary hereditary ichthyoses in the Eastern province of Saudi Arabia

    International Journal of Dermatology

    Volume 45, Issue 3, March 2006, Pages: 257–264, Ahmad A. Al-Zayir and Omar M. Al-Amro Al-Alakloby

    Version of Record online : 20 JAN 2006, DOI: 10.1111/j.1365-4632.2006.02042.x

  19. Ichthyosiform erythroderma and cardiomyopathy: report of two cases and review of the literature

    British Journal of Dermatology

    Volume 139, Issue 6, December 1998, Pages: 1055–1059, Hoeger, Adwani, Whitehead, Finlay and Harper

    Version of Record online : 4 JAN 2002, DOI: 10.1046/j.1365-2133.1998.02565.x

  20. Disorders of sterol synthesis: Beyond Smith–Lemli–Opitz syndrome

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

    Volume 160C, Issue 4, 15 November 2012, Pages: 301–321, Gail E. Herman and Lisa Kratz

    Version of Record online : 5 OCT 2012, DOI: 10.1002/ajmg.c.31340