A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-lik...
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease
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Publisher
England: BMJ Publishing Group Ltd
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Language
English
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Publisher
England: BMJ Publishing Group Ltd
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Background Milroy and Milroy-like disease are rare disorders characterised by congenital lymphoedema caused by dysfunctional lymphatic vessel formation. Loss of extracellular response mediated by vascular endothelial growth factor receptor 3 (VEGFR-3) is associated with Milroy disease, and VEGFR-3 gene is mutated in around 70% of the cases diagnose...
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Full title
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease
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TN_cdi_proquest_miscellaneous_1551640256
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1551640256
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ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2013-102020
