Concept information
Término preferido
Pseudoxanthoma Elasticum
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Tipo
-
mesh:Descriptor
Definición
- An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.
Concepto genérico
En otras lenguas
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francés
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Elastorrhexie systématisée
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Pseudo-xanthome élastique
URI
http://data.loterre.fr/ark:/67375/JVR-WRRGWT4K-K
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