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Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, Patrizi A, Eady RA, McGrath JA. Ashton GH, et al. Among authors: mcgrath ja. J Invest Dermatol. 2004 Jan;122(1):78-83. doi: 10.1046/j.0022-202X.2003.22136.x. J Invest Dermatol. 2004. PMID: 14962093 Free article.
Epidermolysis bullosa.
McGrath JA, Mellerio JE. McGrath JA, et al. Br J Hosp Med (Lond). 2006 Apr;67(4):188-91. doi: 10.12968/hmed.2006.67.4.20864. Br J Hosp Med (Lond). 2006. PMID: 16681305 Review. No abstract available.
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.
Pourreyron C, Cox G, Mao X, Volz A, Baksh N, Wong T, Fassihi H, Arita K, O'Toole EA, Ocampo-Candiani J, Chen M, Hart IR, Bruckner-Tuderman L, Salas-Alanis JC, McGrath JA, Leigh IM, South AP. Pourreyron C, et al. Among authors: mcgrath ja. J Invest Dermatol. 2007 Oct;127(10):2438-44. doi: 10.1038/sj.jid.5700878. Epub 2007 May 10. J Invest Dermatol. 2007. PMID: 17495952 Free article.
Genetic diseases of junctions.
Lai-Cheong JE, Arita K, McGrath JA. Lai-Cheong JE, et al. Among authors: mcgrath ja. J Invest Dermatol. 2007 Dec;127(12):2713-25. doi: 10.1038/sj.jid.5700727. J Invest Dermatol. 2007. PMID: 18007692 Free article. Review.
682 results