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Review
. 2002 Oct;29(10):615-20.
doi: 10.1111/j.1346-8138.2002.tb00190.x.

Pseudoxanthoma elasticum

Toshio Ohtani  1 , Fukumi Furukawa
Affiliations
Review

Pseudoxanthoma elasticum

Toshio Ohtani et al. J Dermatol. 2002 Oct.

Abstract

Pseudoxanthoma elasticum (PXE) is a heritable disease characterized by dermal, ocular, and vascular lesions that result from degeneration of the elastic fibers. Recently, the ATP-binding cassette subfamily C member 6 (ABCC6) gene has been demonstrated to be responsible for PXE, and 43 mutations have been identified to date. However, it is still unknown now mutations in the ABCCC6 gene can lead to manifestations of PXE.

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