Hereditary hemorrhagic telangiectasia prevalence estimates calculated from gnomAD allele frequencies of predicted pathogenic variants in ENG and ACVRL1

2024-12-24 genetic and genomic medicine Title + abstract only

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BackgroundHereditary hemorrhagic telangiectasia (HHT) is considered a fully penetrant autosomal dominant disorder characterized by the development of arteriovenous malformations. Up to 96% of HHT cases are caused by heterozygous loss-of-function mutations in ACVRL1 or ENG, which encode proteins that function in bone morphogenetic protein signaling. HHT prevalence is estimated at 1 in 5000 and is accordingly classified as rare. However, HHT is suspected to be underdiagnosed due to variable age of...

Hereditary hemorrhagic telangiectasia prevalence estimates calculated from gnomAD allele frequencies of predicted pathogenic variants in ENG and ACVRL1

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