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Background Hereditary hemorrhagic telangiectasia (HHT) is a disease characterized by arteriovenous malformations in the skin and mucous membranes. We enrolled a large pedigree comprising 32 living members, and screened for mutations responsible for HHT. Methods We performed whole-exome sequencing to identify novel mutations in the pedigree after excluding three previously reported HHT-related genes using Sanger sequencing. We then performed in silico functional analysis of candidate mutationsdoi:10.1186/s12890-021-01524-4 pmid:34112136 pmcid:PMC8191015 fatcat:vdzwahjt5nf4lktqdtw6ypceei