Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth

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Abstract

Pseudoxanthoma elasticum (PXE) is a heritable connective-tissue disorder affecting the eye, skin, and vascular system. Recent publications show that PXE exclusively segregates in an autosomal recessive fashion. However, the lack of an internationally accepted clinical "gold standard" for PXE, our incomplete knowledge of PXE etiology, and the incomplete nature of some molecular, clinical, and environmental studies warrant further investigation
Original languageEnglish
Pages (from-to)704-705
JournalJournal of Investigative Dermatology
Volume126
Issue number4
DOIs
Publication statusPublished - 2006

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