Open access
Sep 2026
Novel ACVRL1 variant in a family with hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder mainly caused by pathogenic variants in ACVRL1 or ENG . We identified a novel heterozygous ACVRL1 p.Cys95Ser variant in a Japanese family with HHT. The variant co-segregated with clinical features and was associated with im...
Hiroyuki Shimada, Yasuto Sano, Takuma Asahi et al.
· Human Genome Variation · 0 citations