Pseudoxanthoma elasticum
Definition:
References:
-
[1]. Arthur A B Bergen, et al. ABCC6 and pseudoxanthoma elasticum. Pflugers Arch. 2007 Feb;453(5):685-91. [Content Brief]
[2]. Athanasios Aessopos, et al. Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes. Blood. 2002 Jan 1;99(1):30-5. [Content Brief]
[3]. Qiaoli Li, et al. Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene. Am J Pathol. 2009 Feb;174(2):534-40. [Content Brief]
[4]. Qiaoli Li, et al. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol. 2009 Jan;18(1):1-11. [Content Brief]
[5]. S Schön, et al. Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. J Med Genet. 2006 Sep;43(9):745-9. [Content Brief]