Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.

@article{Uitto2011PseudoxanthomaEP,
  title={Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.},
  author={Jouni Uitto and Lionel G. Bercovitch and Sharon F. Terry and Patrick F. Terry},
  journal={American journal of medical genetics. Part A},
  year={2011},
  volume={155A 7},
  pages={1517-26}
}
Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic mineralization, manifests with characteristic skin findings, ocular involvement, and cardiovascular problems. The classic forms of PXE are due to loss-of-function mutations in the ABCC6 gene, which encodes ABCC6, a putative transmembrane efflux transporter expressed primarily in the liver. While considerable progress has recently been made in understanding the molecular genetics and pathomechanisms of PXE, no effective… CONTINUE READING

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