Pachyonychia Congenita Project: Advancing Research and Drug Development through Collaboration
Author:
Affiliation:
1. Pachyonychia Congenita Project, Salt Lake City, Utah, USA
2. 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_2023-0015-IR/_pdf
Reference17 articles.
1. 1. Smith FJ, Hansen CD, Hull PR, Kaspar RL, McLean WH, O’Toole E, Sprecher E: Pachyonychia congenita. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® 2017 Seattle (WA): University of Washington. https://www.ncbi.nlm.nih.gov/books/NBK1280/
2. 2. McLean WH, Hansen CD, Eliason MJ, Smith FJ: The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol 2011; 131: 1015–1017. PMID:21430705 https://doi.org/10.1038/jid.2011.59
3. 3. van Steensel MA, van Geel M, Steijlen PM, Jonkman MF, Irwin McLean WH, Smith FJ: Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol 2003; 121: 1035–1038. PMID:14708603 https://doi.org/10.1046/j.1523-1747.2003.12527.x
4. 4.Eliason MJ, Leachman SA, Feng BJ, 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: https://doi.org/10.1016/j.jaad.2011.12.009
5. 5. Samuelov L, Smith FJ, Hansen CD, Sprecher E: Revisiting pachyonychia congenita: a case‐cohort study of 815 patients. Br J Dermatol 2020; 182: 738–746. PMID:31823354 https://doi.org/10.1111/bjd.18794
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