Lucarini et al. [40] screened the TGFBR1 gene in patients with MFS who were excluded as carriers of the variants in FBN1 and TGFBR2. Their findings suggested that some variants are overrepresented in MSF patients compared to control suggesting that TGFBR1 may be the underlying genetic cause of MSF, but with low penetrance alleles in MFS. Here, TGFBR1 is linked to Marfan syndrome.