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 IJOHNS  Vol.5 No.4 , July 2016
Novel ACLV1 Mutation Identified in Late Onset Hereditary Hemorrhagic Telangiectasia
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.
Cite this paper: Patrick, C. , McIntyre, K. , Ramidial, J. , Joa, S. , Dinsukhlal Zaveri, V. , Hansra, D. (2016) Novel ACLV1 Mutation Identified in Late Onset Hereditary Hemorrhagic Telangiectasia. International Journal of Otolaryngology and Head & Neck Surgery, 5, 157-173. doi: 10.4236/ijohns.2016.54027.
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