| Genetics and syndromes associated with vascular malformations. | |
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MedLine Citation:
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PMID: 20888461 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Historically, vascular malformations were not thought to be the result of genetic abnormalities because most of those presenting clinically are sporadic. However, research in this field has expanded over the last decade, leading to the identification of genetic defects responsible for several inherited forms of vascular malformations and associated syndromes, which has shed light on the pathogenesis of sporadic lesions. This advancement in the field has not only enhanced diagnostic capabilities but also improved our understanding of the potential role of complex genetic mechanisms in vascular malformation development. This article focuses on genetic contributions of vascular malformations in the context of syndromes and the tests that are available. |
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Authors:
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Kelly Duffy |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Pediatric clinics of North America Volume: 57 ISSN: 1557-8240 ISO Abbreviation: Pediatr. Clin. North Am. Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-10-04 Completed Date: 2010-10-25 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0401126 Medline TA: Pediatr Clin North Am Country: United States |
Other Details:
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Languages: eng Pagination: 1111-20 Citation Subset: AIM; IM |
Copyright Information:
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Copyright © 2010 Elsevier Inc. All rights reserved. |
Affiliation:
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Dermatology Department, Pediatric Dermatology, Medical College of Wisconsin, Milwaukee, WI 53226, USA. kduffy@mcw.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Arteriovenous Malformations
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diagnosis,
genetics* Blood Vessels / abnormalities* Capillaries / abnormalities Congenital Abnormalities / genetics Humans Infant, Newborn Intracranial Arteriovenous Malformations / genetics Lymphatic Abnormalities / genetics* Lymphatic Vessels / abnormalities Neoplasms, Vascular Tissue / genetics Neovascularization, Pathologic / genetics Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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