Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene

医学 生病的孩子 医学遗传学 介绍(产科) 家庭医学 皮肤病科 儿科 遗传学 生物 基因 外科
作者
A. Terron‐Kwiatkowski,Alessandro Terrinoni,Biagio Didona,Gerry Melino,David J. Atherton,Alan D. Irvine,W.H. Irwin McLean
出处
期刊:British Journal of Dermatology [Oxford University Press]
卷期号:150 (6): 1096-1103 被引量:46
标识
DOI:10.1111/j.1365-2133.2004.05967.x
摘要

Journal Article Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene Get access A. Terron‐Kwiatkowski, A. Terron‐Kwiatkowski Epithelial Genetics Group, Human Genetics Unit, Ninewells Medical School, Dundee DD1 9SY, U.K, *Biochemistry Laboratory, IDI‐IRCCS, University Tor Vergata, Rome, Italy †MRC Toxicology Unit, University of Leicester, Leicester, U.K. ‡Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, U.K. §Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Dublin, Ireland Search for other works by this author on: Oxford Academic Google Scholar A. Terrinoni, A. Terrinoni Epithelial Genetics Group, Human Genetics Unit, Ninewells Medical School, Dundee DD1 9SY, U.K, *Biochemistry Laboratory, IDI‐IRCCS, University Tor Vergata, Rome, Italy †MRC Toxicology Unit, University of Leicester, Leicester, U.K. ‡Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, U.K. §Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Dublin, Ireland Search for other works by this author on: Oxford Academic Google Scholar B. Didona, B. Didona Epithelial Genetics Group, Human Genetics Unit, Ninewells Medical School, Dundee DD1 9SY, U.K, *Biochemistry Laboratory, IDI‐IRCCS, University Tor Vergata, Rome, Italy †MRC Toxicology Unit, University of Leicester, Leicester, U.K. ‡Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, U.K. §Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Dublin, Ireland Search for other works by this author on: Oxford Academic Google Scholar G. Melino, G. Melino Epithelial Genetics Group, Human Genetics Unit, Ninewells Medical School, Dundee DD1 9SY, U.K, *Biochemistry Laboratory, IDI‐IRCCS, University Tor Vergata, Rome, Italy †MRC Toxicology Unit, University of Leicester, Leicester, U.K. ‡Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, U.K. §Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Dublin, Ireland Search for other works by this author on: Oxford Academic Google Scholar D.J. Atherton, D.J. Atherton Epithelial Genetics Group, Human Genetics Unit, Ninewells Medical School, Dundee DD1 9SY, U.K, *Biochemistry Laboratory, IDI‐IRCCS, University Tor Vergata, Rome, Italy †MRC Toxicology Unit, University of Leicester, Leicester, U.K. ‡Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, U.K. §Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Dublin, Ireland Search for other works by this author on: Oxford Academic Google Scholar A.D. Irvine, A.D. Irvine Epithelial Genetics Group, Human Genetics Unit, Ninewells Medical School, Dundee DD1 9SY, U.K, *Biochemistry Laboratory, IDI‐IRCCS, University Tor Vergata, Rome, Italy †MRC Toxicology Unit, University of Leicester, Leicester, U.K. ‡Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, U.K. §Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Dublin, Ireland Search for other works by this author on: Oxford Academic Google Scholar W.H.I. McLean W.H.I. McLean Epithelial Genetics Group, Human Genetics Unit, Ninewells Medical School, Dundee DD1 9SY, U.K, *Biochemistry Laboratory, IDI‐IRCCS, University Tor Vergata, Rome, Italy †MRC Toxicology Unit, University of Leicester, Leicester, U.K. ‡Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, U.K. §Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Dublin, Ireland W.H.I.McLean. E‐mail: wmclean@hgmp.mrc.ac.uk Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 150, Issue 6, 1 June 2004, Pages 1096–1103, https://doi.org/10.1111/j.1365-2133.2004.05967.x Published: 01 June 2004 Article history Accepted: 01 December 2003 Published: 01 June 2004
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