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. Author manuscript; available in PMC: 2023 Aug 1.
Published in final edited form as: Am J Med Genet A. 2022 May 14;188(8):2389–2396. doi: 10.1002/ajmg.a.62775

Figure 2.

Figure 2.

Pedigree for Patient 4 (ACTA2, p.Arg39Cys) shows inheritance of predominantly thoracic aortic disease segregating with the variant in this family. Males are designated as squares, females as circles, and presence of clinical presentation and genetic test results is indicated according to the legend. Age of death (d. age) or diagnosis (age) is indicated underneath the individual when available. The proband (Patient 4) is indicated with a red arrow (individual VI:5). PDA; patent ductus arteriosus.