Bossler, A.D., Richards, J., George, C., Godmilow, L. and Ganguly, A. (2006) Novel Mutations in ENG and ACVRL1 Identified in a Series of 200 Individuals Undergoing Clinical Genetic Testing for Hereditary Hemorrhagic Telangiectasia (HHT): Correlation of Genotype with Phenotype. Human Mutation, 27, 667-675.
http://dx.doi.org/10.1002/humu.20342

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.