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ACVRL1 variation-induced hereditary hemorrhagic telangiectasia presenting with pulmonary arterial hypertension: clinical and genetic analyses of three case studies

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Background: Hereditary hemorrhagic telangiectasia (HHT) is a hereditary vascular disease, and the ACVRL1 gene plays an important role in this disease, especially when associated with pulmonary arterial hypertension (PAH). In this... ...