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


Megarbane, H., Florence, J., Oliver Sass, J., Schwonbeck, S., Foglio, M., de Cid, R., Cure, S.,Saker, S., Megarbane, A. and Fischer, J.:

J Invest Dermatol 129 (2009) 1650–1655.

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