A case of G1013R FBN1 mutation: A potential genotype–phenotype correlation in severe Marfan syndrome

Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder with a wide range of severities. Ninety‐five percent of MFS probands have a mutation in the fibrillin‐1 gene ( FBN1 ); however, there are a high number of unique mutations complicating attempts at establishing any phenotype–genotype correlations for this disease (Tiecke et al., European Journal of Human Genetics, 2001, 9, 13–21). One of the few extant genotype–phenotype...