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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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Библиографические подробности
Главные авторы: Li, Qiaoli, Jiang, Qiujie, Pfendner, Ellen, Váradi, András, Uitto, Jouni
Формат: Artigo
Язык:Inglês
Опубликовано: 2008
Предметы:
Online-ссылка: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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