Diagnostic criteria for Hereditary Hemorrhagic Telangiectasia (Rendu- Osler-Weber Syndrome)

American Journal of Medical Genetics

Volumn 91, Issue 1, 2000, Pages 66-67

  Shovlin, Claire L ^a   Guttmacher, Alan E ^b   Buscarini, Elisabetta ^c   Faughnan, Marie E ^d   Hyland, Robert H ^d   Westermann, Cornelius J J ^e   Kjeldsen, Anette D ^h   Plauchu, Henri ^f,g  

^a NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^b UNIVERSITY OF VERMONT COLLEGE OF MEDICINE   (United States)

^c GENERAL HOSPITAL   (Italy)

^d ST MICHAEL'S HOSPITAL   (Canada)

^e ST ANTONIUS HOSPITAL   (Netherlands)

^f UNIVERSITÉ LYON 1   (France)

^g HÔTEL DIEU   (France)

^h NONE

Author keywords

Arteriovenous malformation; Autosomal dominant; Cerebral; Epistaxis; Gastrointestinal hemorrhage; Pulmonary

Indexed keywords

ARTERIOVENOUS MALFORMATION; ARTICLE; CLINICAL FEATURE; CLINICAL PROTOCOL; EPISTAXIS; FAMILY HISTORY; HUMAN; INTESTINE MALFORMATION; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE; TELANGIECTASIA;

HUMANS; PRACTICE GUIDELINES; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 0034007163     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P     Document Type: Article

References (7)

1. Bideau A, Plauchu H, Brunet G and Robert J-M. 1989. Etude épidémiologique de la maladie do Rendu-Osler en France. Population 1:9-28.
2. Guttmacher AE, Marchuk DA, White RI. 1995. Hereditary hemorrhagic telangiectasia. New Engl J Med 333:918-924.
3. Guttmacher AE, McKinnon WC , Upton MD. Hereditary hemorrhagic telangiectasia: a disorder in search of the genetics community. 1994. Am J Med Genet 52:252-253.
4. Haitjema T, Westermann CJJ, Overtoom TTC, Timmer R, Disch F, Mauser H, Lammers JWJ. 1996. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) - new insights in pathogenesis, complications, and treatment. Arch Intern Med 156:714-719.
5. Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marodel I, Yoon S-J, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA. 1996. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 13:189-195.
6. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, et al. 1994. Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 8: 345-351.
7. Plauchu H, de Chadarévian J-P, Bideau A and Robert J-M. 1989. Age-related profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 32:291-297.