TGFBR2 and Marfan syndrome: Accordingly, we performed an MLPA assay to screen for FBN1 and TGFBR2 large genomic rearrangements not only in the diagnosed/suspected MFS patients but also in those early-onset aneurysm/dissection patients with minor skeletal and ocular involvement, who had a negative result in a 15-gene panel testing associated with heritable aortopathy.