| Hereditary hemorrhagic telangiectasia: report of 15 affected cases in a Mexican family. | |
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MedLine Citation:
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PMID: 2036743 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a Mexican family with 15 members affected with hereditary hemorrhagic telangiectasia (HHT), all of them suffering from severe hemorrhagic episodes treated with multiple blood transfusions; one patient had a cerebral arteriovenous fistula that required surgical treatment and two others had severe cirrhosis of the liver. Clinical findings in this family illustrate the variable expressivity in HHT, which should be taken into account for the purpose of genetic counselling and monitoring for early detection of systemic complications. |
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Authors:
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B Guillén; J Guízar; J de la Cruz; F Salamanca |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical genetics Volume: 39 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 1991 Mar |
Date Detail:
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Created Date: 1991-07-03 Completed Date: 1991-07-03 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: DENMARK |
Other Details:
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Languages: eng Pagination: 214-8 Citation Subset: IM |
Affiliation:
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Unit of Investigation in Human Genetics, Subjefatura de Investigación and Pediatric Hospital, National Medical Center, I.M.S.S. La Raza, Mexico. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Aged Blood Transfusion Female Gene Expression / genetics Genetic Counseling Genetic Variation / genetics Hemorrhage / etiology, therapy Humans Male Mexico Middle Aged Pedigree Telangiectasia, Hereditary Hemorrhagic / complications, genetics*, pathology |
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