Article
Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
The Journal of investigative dermatology - 1 Apr 2015
Hosen Mohammad J, Van Nieuwerburgh Filip, Steyaert Wouter, Deforce Dieter, Martin Ludovic, Leftheriotis Georges, De Paepe Anne, Coucke Paul J, Vanakker Olivier M
Abstract excerpt
The molecular etiology of pseudoxanthoma elasticum (PXE), an autosomal recessive connective tissue disorder, has become increasingly complex as not only mutations in ATP-binding cassette family C member 6 (ABCC6) but also ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) and gamma-glutamyl carboxylase (GGCX) can cause resembling phenotypes. Identification of modifier genes, such as vascular endothelial...
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