A novel endoglin mutation in hereditary hemorrhagic telangiectasia type 1: A case report

Braverman IM, Keh A and Jacobson BS: Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangectasia. J Invest Dermatol. 95:422–427. 1990. View Article : Google Scholar : PubMed/NCBI

Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD and Plauchu H: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 91:66–67. 2000. View Article : Google Scholar : PubMed/NCBI

McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC and Murrell J: Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 8:345–351. 1994. View Article : Google Scholar : PubMed/NCBI

Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME and Marchuk DA: Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 13:189–195. 1996. View Article : Google Scholar : PubMed/NCBI

Bossler AD, Richards J, George C and Godmilow L: correlation of genotype with phenotype. Hum Mutat. 27:667–675. 2006. View Article : Google Scholar : PubMed/NCBI

Abdalla SA and Letarte M: Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet. 43:97–110. 2006. View Article : Google Scholar

Prigoda NL, Savas S, Abdalla SA, Piovesan B, Rushlow D, Vandezande K, Zhang E, Ozcelik H, Gallie BL and Letarte M: Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations. J Med Genet. 43:722–728. 2006. View Article : Google Scholar : PubMed/NCBI

McAllister KA, Baldwin MA, Thukkani AK, Gallione CJ, Berg JN, Porteous ME, Guttmacher AE and Marchuk DA: Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. Hum Mol Genet. 4:1983–1985. 1995. View Article : Google Scholar : PubMed/NCBI

Frischmeyer PA and Dietz HC: Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet. 8:1893–1900. 1999. View Article : Google Scholar : PubMed/NCBI

Pece-Barbara N, Cymerman U, Vera S, Marchuk DA and Letarte M: Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. Hum Mol Genet. 8:2171–2181. 1999. View Article : Google Scholar : PubMed/NCBI

Berg J, Porteous M, Reinhardt D, Gallione C, Holloway S, Umasunthar T, Lux A, McKinnon W, Marchuk D and Guttmacher A: Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. J Med Genet. 40:585–590. 2003. View Article : Google Scholar : PubMed/NCBI