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Article

Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring.

Journal of the American Academy of Dermatology - 1 Mar 2001

Sherer D W, Bercovitch L, Lebwohl M

Abstract excerpt

The inheritance pattern of pseudoxanthoma elasticum (PXE) is controversial. Inheritance patterns are confounded by delayed diagnosis and mild or limited phenotypic expression among certain family members. Because testing for the genetic mutation(s) responsible for PXE is not routine, genetic counseling must be done with caution. We describe 4 families in which one or more children were diagnosed with PXE....

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PMID: 11209132
DOI: 10.1067/mjd.2001.112401

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