Article
Orthopaedic aspects in seventy-two children affected by Marfan syndrome. Correlations between pathological features and fibrillin-1 gene mutations.
Journal of biological regulators and homeostatic agents - 1 Jan 2000
De Maio F, Pisano C, Caterini A, Efremov K, Ruvolo G, Farsetti P
Abstract excerpt
Marfan syndrome is an autosomal dominant disorder of the connective tissue caused by mutations of the fibrillin-1 gene (FBN1) that primarly involves the cardiovascular, skeletal and ocular systems. We investigated 72 children affected by Marfan syndrome in order to identify possible correlations between some musculoskeletal features and specific mutations of fibrillin-1 gene. The following FBN-1 gene mutations...
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