he analysis of the TGF-β family and angiodysplasia bywhole exome sequencing.

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The purpose of this study isto reveal thegene forarteriovenousmalformationof unknown cause. Cause of arteriovenous malformation such as Osler-Weber-Rendu disease or heritable pulmonary arterial hypertension is caused by single gene defects such as the TGF-beta family gene.Wehypothesized thatmalformationisassociated with TGF-beta gene family. Using patient samples as arteriovenous malformation, we analyzed by whole exome sequencing and investigated that mutations are present in the TGF-beta family genes. In the gene family of about 70 genes, we found two candidate genes where the mutation in exon on.