TITLE:
Novel ACLV1 Mutation Identified in Late Onset Hereditary Hemorrhagic Telangiectasia
AUTHORS:
Cory Patrick, Kaitlin McIntyre, Jeremy Ramidial, Sano Joa, Vijaykumar Dinsukhlal Zaveri, Damien Hansra
KEYWORDS:
Hereditary Hemorrhagic Telaniectasia, Osler-Weber-Rendu Syndrome, Anemia, Mutation
JOURNAL NAME:
International Journal of Otolaryngology and Head & Neck Surgery,
Vol.5 No.4,
July
18,
2016
ABSTRACT: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder with variable
expressivity. We present a 62-year-old patient with a rare, late-onset disease course featuring a
novel mutation in ACVRL1, a signal transducer in the TGFβ/BMP pathway.