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A NOVEL FLT4 GENE MUTATION AND MR LYMPHANGIOGRAPHY IN A CHINESE FAMILY WITH MILROY DISEASE.
N F Liu, Z Yu, Y Luo, D Sun, Z Yan
Lymphology 2015 Jun
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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.
Citation
N F Liu, Z Yu, Y Luo, D Sun, Z Yan.
A NOVEL FLT4 GENE MUTATION AND MR LYMPHANGIOGRAPHY IN A CHINESE FAMILY WITH MILROY DISEASE.
Lymphology.
2015 Jun;48(2):93-6
Mesh Tags
Adult
Asian Continental Ancestry Group
Child, Preschool
China
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Heredity
Humans
Lower Extremity
Lymphedema
Lymphography
Magnetic Resonance Imaging
Male
Mutation
Pedigree
Phenotype
Predictive Value of Tests
Vascular Endothelial Growth Factor Receptor-3
Substances
vegfr3 protein, human
Vascular Endothelial Growth Factor Receptor-3
PMID: 26714373
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