Pseudoxanthoma elasticum
Abstract Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. Th...
Guardat en:
| Autor principal: | |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2017-05-01
|
| Col·lecció: | Orphanet Journal of Rare Diseases |
| Matèries: | |
| Accés en línia: | http://link.springer.com/article/10.1186/s13023-017-0639-8 |
| Etiquetes: |
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|