McDonald, J. and Pyeritz, R. (2014) Hereditary Hemorrhagic Telangiectasia. University of Washington, Gene Reviews, Seattle.

has been cited by the following article:

• 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.