Article
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.
The Journal of investigative dermatology - 1 Jun 2008
Claus Stephanie, Fischer Judith, Mégarbané Hala, Mégarbané André, Jobard Florence, Debret Romain, Peyrol Simone, Saker Safa, Devillers Martine, Sommer Pascal, Damour Odile
Abstract excerpt
Cutis laxa (CL) is a rare genodermatosis, which is clinically and genetically heterogeneous. It is characterized by redundant, loose, sagging, and inelastic skin. In a consanguineous family from Lebanon with autosomal-recessive transmission, we identified a homozygous missense mutation (c.649T --> C; p.C217R) in the fibulin-5 gene (FBLN5), which was, to our knowledge, previously unreported. Small skin biopsies...
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