Clinical heterogeneity in hereditary haemorrhagic telangiectasia: Are pulmonary arteriovenous malformations more common in families linked to endoglin?

Journal of Medical Genetics

Volumn 33, Issue 3, 1996, Pages 256-257

  Berg, Jonathan N ^a   Guttmacher, Alan E ^b   Marchuk, Douglas A ^c   Porteous, Mary E M ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b UNIVERSITY OF VERMONT   (United States)

^c DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Endoglin; Hereditary haemorrhagic telangiectasia; Pulmonary arteriovenous malformation

Indexed keywords

ENDOGLIN;

ARTERIOVENOUS MALFORMATION; ARTICLE; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENETIC LINKAGE; HIGH RISK POPULATION; HUMAN; LUNG CIRCULATION; MALE; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE;

EID: 0030047241     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.3.256     Document Type: Article

References (13)

1. Porteous MEM, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet 1992;29:527-30.
2. Plauchu H, de Chadarevian JP, Bideau A, et al. Age-related clinical profile of hereditary haemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989;32:291-7.
3. White RI Jr, Lynch-Nyhan A, Terry P, et al. Pulmonary arteriovenous malformations: techniques and long term outcome of embolotherapy. Radiology 1988;169:663-9.
4. Hughes JMB. Intrapulmonary shunts: coils to transplantation. J R C Physicians Lond 1994;28:247-53.
5. Haitjema TJ, Overtoom TTh, Westermann CJJ, et al. Embolisation of pulmonary arteriovenous malformations: results and follow up in 32 patients. Thorax 1995;50:719-23.
6. 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.
7. Shovlin CL, Hughes JMB, Tuddenham EGD, et al. A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nature Genet 1994;6:205-9.
8. McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nature Genet 1994;8:345-51.
9. Heutink P, Haitjema T, Breedveld GJ, et al. Linkage of hereditary haemorrhagic telangiectasia to 9q34 and evidence for locus heterogeneity. J Med Genet 1994;31:933-6.
10. 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.
11. 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.
12. Porteous MEM, Curtis A, Williams O, et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia. J Med Genet 1994;31:925-6.
13. McAllister KA, Lennon F, Bowles-Bieseckker B, et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. J Med Genet 1994;31:927-32.