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Results 1 - 4 of 4 for Pseudoxanthoma elasticum
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  1. Pseudoxanthoma elasticum 
    Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and ... syndrome Gronblad-Strandberg syndrome PXE Genetic Testing Registry: Pseudoxanthoma elasticum Pseudoxanthoma elasticum National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/pseudoxanthoma-elasticum - Genetics
  2. ABCC6 gene 
    ... mutations have also been identified in people with pseudoxanthoma elasticum (PXE), described below. These mutations lead to an ... More than 200 ABCC6 gene mutations that cause pseudoxanthoma elasticum (PXE) have been identified. PXE is a condition ...
    https://medlineplus.gov/genetics/gene/abcc6 - Genetics
  3. Generalized arterial calcification of infancy 
    ... features similar to those of another disorder called pseudoxanthoma elasticum (PXE). PXE is characterized by the accumulation of ... generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum. J Invest Dermatol. 2014 Mar;134(3):658- ...
    https://medlineplus.gov/...ralized-arterial-calcification-of-infancy - Genetics
  4. ENPP1 gene 
    ... Rutsch F. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 ...
    https://medlineplus.gov/genetics/gene/enpp1 - Genetics