Article
Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.
The Journal of investigative dermatology - 1 Apr 2006
Ringpfeil Franziska, McGuigan Kelly, Fuchsel Lauren, Kozic Heidi, Larralde Margarita, Lebwohl Mark, Uitto Jouni
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is caused by mutations in the ABCC6 gene. Historically, PXE has been suggested to be inherited either in an autosomal dominant or autosomal recessive manner. To determine the exact mode of inheritance of PXE and to address the question of phenotypic expression in mutation carriers, we identified seven pedigrees with affected individuals in two different generations and sequenced the...
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