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  • Title: Pseudoxanthoma elasticum-like phenotypes: more diseases than one.
    Author: Uitto J, Jiang Q.
    Journal: J Invest Dermatol; 2007 Mar; 127(3):507-10. PubMed ID: 17299431.
    Abstract:
    The classic pseudoxanthoma elasticum (PXE) phenotype derives from mutations in ABCC6. PXE-like phenotypes have been observed in a number of disorders, with no evidence of mutations in ABCC6. Vanakker et al. report PXE-like skin findings in patients with mutations in GGCX critical for gamma-carboxylation of gla-proteins. This report expands the clinical spectrum of PXE-like conditions and also provides potential insights into the ectopic mineralization process.
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