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Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches.
O'Toole EA, Kelsell DP, Caterina MJ, de Brito M, Hansen D, Hickerson RP, Hovnanian A, Kaspar R, Lane EB, Paller AS, Schwartz J, Shroot B, Teng J, Titeux M, Coulombe PA, Sprecher E. O'Toole EA, et al. J Invest Dermatol. 2024 Apr;144(4):748-754. doi: 10.1016/j.jid.2023.10.030. Epub 2023 Dec 15. J Invest Dermatol. 2024. PMID: 38099888 Review.
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Kelsell DP, et al. Am J Hum Genet. 2005 May;76(5):794-803. doi: 10.1086/429844. Epub 2005 Mar 8. Am J Hum Genet. 2005. PMID: 15756637 Free PMC article.
Clinical and pathological features of pachyonychia congenita.
Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane EB. Leachman SA, et al. J Investig Dermatol Symp Proc. 2005 Oct;10(1):3-17. doi: 10.1111/j.1087-0024.2005.10202.x. J Investig Dermatol Symp Proc. 2005. PMID: 16250204 Free article. Review.
Clinical and genetic heterogeneity of erythrokeratoderma variabilis.
Common JE, O'Toole EA, Leigh IM, Thomas A, Griffiths WA, Venning V, Grabczynska S, Peris Z, Kansky A, Kelsell DP. Common JE, et al. J Invest Dermatol. 2005 Nov;125(5):920-7. doi: 10.1111/j.0022-202X.2005.23919.x. J Invest Dermatol. 2005. PMID: 16297190 Free article.
150 results