Article
Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.
American journal of medical genetics - 20 Mar 2000
Palz M, Tiecke F, Booms P, Göldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann U C, von Kodolitsch Y, Nienaber C A, Leitner C, Katzke S, Vetter B, Hagemeier C, Robinson P N
Abstract excerpt
Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome, a dominantly inherited disorder of connective tissue that primarily involves the cardiovascular, ocular, and skeletal systems. There is a remarkable degree of variability both within and between families with Marfan syndrome, and FBN1 mutations have also been found in a range of other related connective tissue disorders collectively termed type-1...
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