Article
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.
The Journal of investigative dermatology - 1 Jul 2009
Mégarbané Hala, Florence Jobard, Sass Jörn Oliver, Schwonbeck Susanne, Foglio Mario, de Cid Rafael, Cure Susan, Saker Safa, Mégarbané André, Fischer Judith
Abstract excerpt
Cutis laxa (CL) is a heterogeneous group of connective tissue disorders characterized by loose, sagging skin and variable involvement of other organs. Autosomal-dominant forms are relatively mild, and may be caused by mutations in the elastin gene, whereas the more severe recessive forms have been associated with mutations in the fibulin 4 and fibulin 5 genes, as well as in a vesicular ATPase subunit. We describe...
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