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Hereditary hemorrhagic telangiectasia prevalence estimates calculated from gnomAD allele frequencies of predicted pathogenic variants inENGandACVRL1

2024-12-24

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<h4>Background</h4> Hereditary 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...

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Literature Corpus work: 0af6217f-0ccd-5e91-9291-ee923bce24f9
DOI: 10.1101/2024.12.20.24319290

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

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