Article
Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches.
The Journal of investigative dermatology - 1 Apr 2024
O'Toole Edel A, Kelsell David P, Caterina Michael J, de Brito Marianne, Hansen David, Hickerson Robyn P, Hovnanian Alain, Kaspar Roger, Lane E Birgitte, Paller Amy S, Schwartz Janice, Shroot Braham, Teng Joyce, Titeux Matthias, Coulombe Pierre A, Sprecher Eli
Abstract excerpt
Pachyonychia congenita (PC) is a dominantly inherited genetic disorder of cornification. PC stands out among other genodermatoses because despite its rarity, it has been the focus of a very large number of pioneering translational research efforts over the past 2 decades, mostly driven by a patient support organization, the Pachyonychia Congenita Project. These efforts have laid the ground for innovative...
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