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Concept information

Terme préférentiel

Pseudoxanthoma Elasticum  

Type

  • mesh:Descriptor

Définition

  • 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.

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-WRRGWT4K-K

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 18/06/2015