{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T10:22:42Z","timestamp":1790504562791,"version":"4.1.0"},"reference-count":13,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,3]]},"abstract":"<jats:p>Pulmonary arteriovenous malformations (PAVMs) occur in up to 27% of patients with hereditary haemorrhagic telangiectasia (HHT) and are associated with a rate of paradoxical cerebral embolism at presentation of up to 36%. At least two different loci have been shown for HHT. Mutations in endoglin have been found in some families and the locus designated ORW1. In other families this locus has been excluded. In this paper we confirm that in families linked to ORW1 there is a prevalence of PAVMs among affected members of 29.2%, compared to a prevalence of 2.9% in families in which this locus has been excluded (chi 2 = 19.2, p &lt; 0.001). This information can be used to decide how to screen HHT patients for PAVMs.<\/jats:p>","DOI":"10.1136\/jmg.33.3.256","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"256-257","source":"Crossref","is-referenced-by-count":90,"title":["Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?"],"prefix":"10.1136","volume":"33","author":[{"given":"J N","family":"Berg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A E","family":"Guttmacher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D A","family":"Marchuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M E","family":"Porteous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1136\/jmg.29.8.527","article-title":"Hereditary haemorrhagic telangiectasia: a clinical analysis","volume":"29","author":"Porteous, M.E.M.; Burn, J.; Proctor, S.J.","year":"1992","unstructured":"Porteous MEM, Burn J, Proctor SJ. 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J R C Physicians Lond 1994;28:247-53.","journal-title":"J R C Physicians Lond"},{"key":"ref_5","first-page":"719","article-title":"Embolisation ofpulmonary arteriovenous malformations: results and follow up in 32 patients","volume":"50","author":"Haitjema, T.J.; TTh, Overtoom; Westermann, C.J.J.","year":"1995","unstructured":"Haitjema TJ, Overtoom TTh, Westermann CJJ, et al. Embolisation ofpulmonary arteriovenous malformations: results and follow up in 32 patients. Thorax 1995;50:719-23."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/ng0294-197","article-title":"A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34","volume":"6","author":"McDonald, M.T.; Papenberg, K.A.; Ghosh, S.","year":"1994","unstructured":"McDonald MT, Papenberg KA, Ghosh S, et al. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nature Genet 1994;6:197-204.","journal-title":"Nature Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1038\/ng0294-205","article-title":"A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3","volume":"6","author":"Shovlin, C.L.; Hughes, J.M.B.; Tuddenham, E.G.D.","year":"1994","unstructured":"Shovlin CL, Hughes JMB, Tuddenham EGD, et al. A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nature Genet 1994;6:205-9.","journal-title":"Nature Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1038\/ng1294-345","article-title":"a TGF-1 binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1","volume":"8","author":"McAllister, K.A.; Grogg, K.M.; Johnson, D.W.","year":"1994","unstructured":"McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-1 binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nature Genet 1994;8:345-5 1.","journal-title":"Nature Genet"},{"key":"ref_9","first-page":"933","article-title":"Linkage of hereditary haemorrhagic telangiectasia to 9q34 and evidence for locus heterogeneity.3Med Genet","volume":"31","author":"Heutink, P.; Haitjema, T.; Breedveld, G.J.","year":"1994","unstructured":"Heutink P, Haitjema T, Breedveld GJ, et al. Linkage of hereditary haemorrhagic telangiectasia to 9q34 and evidence for locus heterogeneity.3Med Genet 1994;31:933-6."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1093\/hmg\/4.5.945","article-title":"A third locus for hereditary haemorrhagic telangiectasia maps to 12q","volume":"5","author":"Vincent, P.; Plauchu, H.; Hazan, J.","year":"1995","unstructured":"Vincent P, Plauchu H, Hazan J, et al. A third locus for hereditary haemorrhagic telangiectasia maps to 12q. Hum Mol Genet 1995;5:945-50.","journal-title":"Hum Mol Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1101\/gr.5.1.21","article-title":"A second locus for hereditary haemorrhagic telangiectasia maps to chromosome 12","volume":"5","author":"Johnson, D.W.; Berg, J.N.; Gallione, C.","year":"1995","unstructured":"Johnson DW, Berg JN, Gallione C, et al. A second locus for hereditary haemorrhagic telangiectasia maps to chromosome 12. Genome Res 1995;5:21-8.","journal-title":"Genome Res"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1136\/jmg.31.12.925","article-title":"Genetic heterogeneity in hereditary haemorrhagic telangiectasia","volume":"31","author":"true","year":"1994","unstructured":"Porteous MEM, Curtis A, Williams 0, et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia. Y Med Genet 1994;31:925-6.","journal-title":"Y Med Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1136\/jmg.31.12.927","article-title":"Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype","volume":"31","author":"McAllister, K.A.; Lennon, F.; Bowles-Bieseckker, B.","year":"1994","unstructured":"McAllister KA, Lennon F, Bowles-Bieseckker B, et al. 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