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Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Pfendner EG, et al. J Med Genet. 2007 Oct;44(10):621-8. doi: 10.1136/jmg.2007.051094. Epub 2007 Jul 6. J Med Genet. 2007. PMID: 17617515 Free PMC article.
Pseudoxanthoma elasticum 2004.
Bercovitch L, Terry P. Bercovitch L, et al. J Am Acad Dermatol. 2004 Jul;51(1 Suppl):S13-4. doi: 10.1016/j.jaad.2004.01.015. J Am Acad Dermatol. 2004. PMID: 15243491 Review. No abstract available.
101 results