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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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Detalles Bibliográficos
Main Authors: Chassaing, N, Martin, L, Calvas, P, Le Bert, M, Hovnanian, A
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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