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Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene

BACKGROUND: Cutis laxa is an acquired or inherited condition characterized by redundant, pendulous and inelastic skin. Autosomal dominant cutis laxa has been described as a benign disease with minor systemic involvement. OBJECTIVE: To report a family with autosomal dominant cutis laxa and a young gi...

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Hlavní autoři: Szabo, Z, Crepeau, M W, Mitchell, A L, Stephan, M J, Puntel, R A, Loke, K Yin, Kirk, R C, Urban, Z
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2006
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563239/
https://ncbi.nlm.nih.gov/pubmed/16085695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.034157
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