Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth.
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.
Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands. a.bergen@ioi.knaw.nl
Arthur A B
AA
Bergen
D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D011561:Pseudoxanthoma Elasticum / Q000235:genetics*