Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.

@article{Martin2008HeterozygosityFA,
  title={Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.},
  author={L Martin and Fr{\'e}d{\'e}ric Ma{\^i}tre and Pierre Bonicel and Patrick Daudon and Christophe Verny and D. Bonneau and Olivier Le Saux and Nicolas Chassaing},
  journal={Archives of dermatology},
  year={2008},
  volume={144 3},
  pages={301-6}
}
OBJECTIVES To illustrate a phenotypic overlap consisting of usual, but limited, or atypical manifestations of pseudoxanthoma elasticum (PXE) between heterozygous carriers of a single ABCC6 mutation and patients diagnosed with PXE, carriers of homozygous or compound heterozygous mutations. DESIGN Evaluation for full and typical, incomplete, mild, or overlooked PXE during a 5-year period (2001-2005) based on the following 1992 expert consensus conference items: (1) yellowish papular skin… CONTINUE READING

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