Pachyonychia Congenita: Clinical Features and Future Treatments-Reference-Cited by-同舟云学术

Pachyonychia Congenita: Clinical Features and Future Treatments

Published:2023 Issue: Volume: Page:
ISSN:0022-9717
Container-title:The Keio Journal of Medicine
language:en
Short-container-title:Keio J. Med.

Author:

Mccarthy Rebecca L.¹,De brito Marianne¹,O’toole Edel¹

Affiliation:

1. Centre for Cell Biology and Cutaneous Research, Blizard Institute, The Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom

Publisher

Keio Journal of Medicine

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/kjm/advpub/0/advpub_2023-0012-IR/_pdf

Reference61 articles.

1. 1. Smith FJ, Jonkman MF, van Goor H, Coleman CM, Covello SP, Uitto J, McLean WH: A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet 1998; 7: 1143–1148. PMID:9618173 https://doi.org/10.1093/hmg/7.7.1143

2. 2. McLean WH, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJC, Griffiths WAD, Eady RAJ, Higgins C, Navsaria HA, Leigh IM, Strachan T, Kunkeler L, Munro CS: Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 1995; 9: 273–278. https://doi.org/10.1038/ng0395-273

3. 3. Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ: Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet 1995; 10: 363–365. https://doi.org/10.1038/ng0795-363

4. 4. Wilson NJ, Messenger AG, Leachman SA, O’Toole EA, Lane EB, Irwin McLean WH, Smith FJ: Keratin K6c mutations cause focal palmoplantar keratoderma. J Invest Dermatol 2010; 130: 425–429. PMID:19609311 https://doi.org/10.1038/jid.2009.215

5. 5. Eliason MJ, Leachman SA, Feng B, Schwartz ME, Hansen CD: A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. J Am Acad Dermatol 2012; 67: 680–686. PMID:22264670 https://doi.org/10.1016/j.jaad.2011.12.009

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