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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Chassaing, N, Martin, L, Calvas, P, Le Bert, M, Hovnanian, A
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2005
Schlagworte:
Online Zugang: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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