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Pseudoxanthoma Elasticum
Author(s) -
Ohtani Toshio,
Furukawa Fukumi
Publication year - 2002
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.2002.tb00190.x
Subject(s) - pseudoxanthoma elasticum , subfamily , angioid streaks , pathology , gene , medicine , macular degeneration , genetics , biology , ophthalmology , choroidal neovascularization
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 how mutations in the ABCC6 gene can lead to manifestations of PXE.