Abstract
Milroy disease is a congenital onset lymphedema linked to FLT4 gene mutations in the tyrosine kinase domain. So far, a total of 59 different FLT4 variants have been identified. Here, we report a novel FLT4 gene mutation in a Chinese family with Milroy disease and present their clinical symptoms and MR lymphangiographic findings.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Asian People / genetics*
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Child, Preschool
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China
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DNA Mutational Analysis
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Female
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Genetic Predisposition to Disease
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Heredity
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Humans
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Lower Extremity / pathology*
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Lymphedema / ethnology
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Lymphedema / genetics*
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Lymphedema / pathology*
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Lymphography / methods*
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Magnetic Resonance Imaging*
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Male
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Mutation*
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Pedigree
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Phenotype
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Predictive Value of Tests
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Vascular Endothelial Growth Factor Receptor-3 / genetics*
Substances
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FLT4 protein, human
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Vascular Endothelial Growth Factor Receptor-3