Somatic variants in HHT second hit study
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Hereditary Haemorrhagic Telangiectasia (HHT) is a vascular disorder linked to germline mutations. We performed deep sequencing on multiple lesions from one HHT patient with an ACVRL1 deletion and identified three somatic variants in five samples. Findings support a second-hit mechanism driving lesion formation in HHT.
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2025-06-07
