The ACVRL1 c.314-35A>G Polymorphism is Associated with Organ Vascular Malformations in Hereditary Hemorrhagic Telangiectasia Patients with ENG Mutations, but not in Patients with ACVRL1 Mutations

Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of vascular malformations (VMs) and caused by mutations in TGFβ/BMP9 pathway genes, most commonly ENG or ACVRL1. Patients with HHT have diverse phenotypes related to skin and mucosal telangiectases and organ VMs, including...

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Bibliographic Details
Published in:Am J Med Genet A
Main Authors: Pawlikowska, Ludmila, Nelson, Jeffrey, Guo, Diana E., McCulloch, Charles E., Lawton, Michael T., Young, William L., Kim, Helen, Faughnan, Marie E.
Format: Artigo
Language:Inglês
Published: 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4449292/
https://ncbi.nlm.nih.gov/pubmed/25847705
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36936
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