Author

H. Muramatsu

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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