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Article

Paediatric pseudoxanthoma elasticum with cardiovascular involvement.

The British journal of dermatology - 1 Nov 2013

Li Q, Baker J, Kowalczyk J, Jiang Q, Uitto J, Schachner L

Abstract excerpt

BACKGROUND: Pseudoxanthoma elasticum (PXE) is characterized by aberrant mineralization of connective tissues, causing considerable morbidity and mortality. The disease is typically of late onset, the skin manifestations first being noted in the teens or later. Another aberrant mineralization disorder, generalized arterial calcification of infancy (GACI), is present at birth and can demonstrate a phenotypic...

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Source

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Identifiers

PMID: 23746223
DOI: 10.1111/bjd.12462
PMCID: PMC3809148

Genes

ABCC6
ENPP1

Variants

Provenance

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Paediatric pseudoxanthoma elasticum with cardiovascular involvement.PMID 23746223Read ↗

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