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Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.
Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S, Relic J, Marr P, Tran K, Turner A, Smith N, Murrell DF. Dang N, et al. Among authors: klingberg s. Acta Derm Venereol. 2008;88(5):438-48. doi: 10.2340/00015555-0484. Acta Derm Venereol. 2008. PMID: 18779879 Free article. Review.
Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.
Murrell DF, Pasmooij AM, Pas HH, Marr P, Klingberg S, Pfendner E, Uitto J, Sadowski S, Collins F, Widmer R, Jonkman MF. Murrell DF, et al. Among authors: klingberg s. J Invest Dermatol. 2007 Jul;127(7):1772-5. doi: 10.1038/sj.jid.5700766. Epub 2007 Mar 8. J Invest Dermatol. 2007. PMID: 17344927 Free article. No abstract available.
170 results