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Article

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

Archives of dermatology - 1 Mar 2008

Martin Ludovic, Maître Frédéric, Bonicel Pierre, Daudon Patrick, Verny Christophe, Bonneau Dominique, Le Saux Olivier, Chassaing Nicolas

Abstract excerpt

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...

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Identifiers

PMID: 18347285
DOI: 10.1001/archderm.144.3.301

Genes

ABCC6

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