Proposal for updating the pseudoxanthoma
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Astrid S. Plomp; Johan Toonstra; Arthur A.B. Bergen; Marijke R. van Dijk; Paulus
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Article
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2010
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John Wiley and Sons
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English
⚖ 351 KB
👁 1 views
## Abstract Pseudoxanthoma elasticum (PXE) is a systemic disorder affecting elastic tissues most markedly in skin, retina, and blood vessels. It is caused by mutations in the __ABCC6__ gene and is transmitted in an autosomal recessive fashion. In 1994 a new classification system for PXE was publish