Format

Send to

Choose Destination
J Invest Dermatol. 2006 Apr;126(4):704-5.

Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth.

Author information

1
Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands. a.bergen@ioi.knaw.nl

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.

PMID:
16541094
DOI:
10.1038/sj.jid.5700129
[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center