TGFBR2 and Loeys-Dietz syndrome: Here we report an individual 22.1 with a heterozygous missense variant in the TGFBR2 NM_003242.6:c.1561T>C; p.(Trp521Arg) (Table 2; Supplementary Figures S1O, S3.43) and diagnosed with Loeys-Dietz syndrome including hypoplastic amelogenesis imperfecta.