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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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Autores principales: Li, Qiaoli, Jiang, Qiujie, Pfendner, Ellen, Váradi, András, Uitto, Jouni
Formato: Artigo
Lenguaje:Inglês
Publicado: 2008
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Acceso en línea: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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