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Article

An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.

American journal of medical genetics. Part A - 1 Jan 2010

Le Boulanger G, Labrèze C, Croué A, Schurgers L J, Chassaing N, Wittkampf T, Rutsch F, Martin L

Abstract excerpt

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease affecting tissues rich in elastic fibers such as the skin, retina, and cardiovascular system. Mutations in the ABCC6 gene are known to be causative in most patients. Generalized arterial calcification of infancy (GACI) is characterized by extensive hydroxyapatite deposits in the internal elastic laminae in large and medium-sized arteries, leading to...

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Source

Identifiers

PMID: 20034067
DOI: 10.1002/ajmg.a.33162

Genes

ABCC6
ENPP1

Provenance

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An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.PMID 20034067Read ↗

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Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in theENPP1geneSemantic proximity Read ↗

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