Case report: Novel homozygous ACVRL1 missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele - Mathavan, Akash; Mathavan, Akshay; Krekora, Urszula; Rao, Adityanarayan; Zumberg, Marc S.; Justice, Jeb; Bayrak-Toydemir, Pinar; McDonald, Jamie; Ataya, Ali (Frontiers in Genetics, 2025)