| Dominant inheritance and intra-familial variations in the association of Sturge-Weber and Klippel-Trenaunay-Weber syndromes. | |
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MedLine Citation:
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PMID: 20838488 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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This case report shows a genealogical study where a woman has limb hypertrophy and her son has an association of Sturge-Weber syndrome with Klippel-Trenaunay-Weber syndrome. The Sturge-Weber and Klippel-Trenaunay-Weber syndromes appear to be different manifestations of the same affliction. Familial aggregation exists and transmission may be almost imperceptible between generations. Identification of minor manifestations may prove to be a valuable contribution to genetic counseling of families and the prevention of new cases. |
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Authors:
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José Maria Pereira de Godoy; Agnes Cristina Fett-Conte |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Indian journal of human genetics Volume: 16 ISSN: 0971-6866 ISO Abbreviation: Indian J Hum Genet Publication Date: 2010 Jan |
Date Detail:
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Created Date: 2010-09-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101223637 Medline TA: Indian J Hum Genet Country: India |
Other Details:
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Languages: eng Pagination: 26-7 Citation Subset: - |
Affiliation:
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Adjunct Professor of the Cardiology and Cardiovascular Surgery Department and Professor of the Post Graduation course of Medical School of São Jose do Rio Preto-SP-FAMERP and CNPq Researcher-Brazil. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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