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Pedigree and the results of genetic testing. Genetic testing was performed in I-1, II-1, II-2, III-1, and III-2. An ACVRL1 variant, NM 000020.2: c.1451G>t (p.Arg484Leu), was identified in I-1 and II-1. The black arrow shows the proband. Cases with the ACVRL1 variant are shown as (+), and those without the mutation are shown as (-). Squares represent males, and circles represent females. HHT: hereditary hemorrhagic telangiectasia, PH: pulmonary hypertension
