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Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
Pseudoxanthoma elasticum (PXE) is an inherited systemic disease of connective tissue primarily affecting the skin, retina, and cardiovascular system. It is characterised pathologically by elastic fibre mineralisation and fragmentation (so called "elastorrhexia"), and clinically by high het...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMJ Group
2005
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| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1735972/ https://ncbi.nlm.nih.gov/pubmed/15894595 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.030171 |
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