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Ichthyosis bullosa of Siemens--a disease involving keratin 2e.
McLean WH, Morley SM, Lane EB, Eady RA, Griffiths WA, Paige DG, Harper JI, Higgins C, Leigh IM. McLean WH, et al. Among authors: paige dg. J Invest Dermatol. 1994 Sep;103(3):277-81. doi: 10.1111/1523-1747.ep12394307. J Invest Dermatol. 1994. PMID: 7521371 Free article.
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.
Restrictive dermopathy: a disorder of fibroblasts.
Paige DG, Lake BD, Bailey AJ, Ramani P, Harper JI. Paige DG, et al. Br J Dermatol. 1992 Dec;127(6):630-4. doi: 10.1111/j.1365-2133.1992.tb14878.x. Br J Dermatol. 1992. PMID: 1476923 Review.
33 results