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Pseudoxanthoma elasticum: Clinical phenotypes, molecular genetics and putative pathomechanisms
Pseudoxanthoma elasticum (PXE), a prototype of heritable multi-system disorders, is characterized by pathologic mineralization of connective tissues, with primary clinical manifestations in the skin, eyes and the cardiovascular system. The causative gene was initially identified as ABCC6 which encod...
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| Main Authors: | , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2008
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3349969/ https://ncbi.nlm.nih.gov/pubmed/19054062 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1600-0625.2008.00795.x |
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