AUTHOR=Mathavan Akash , Mathavan Akshay , Krekora Urszula , Rao Adityanarayan , Zumberg Marc S. , Justice Jeb , Bayrak-Toydemir Pinar , McDonald Jamie , Ataya Ali 

TITLE=Case report: Novel homozygous ACVRL1 missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele

JOURNAL=Frontiers in Genetics

VOLUME=16

YEAR=2025

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1554624

DOI=10.3389/fgene.2025.1554624

ISSN=1664-8021