Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Hereditary lymphedema type 1c is an autosomal dominant disorder caused by mutations of the GJC2 gene.
| 1. |
Gordon K et al. (2013) Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema. 
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| 2. |
Ferrell RE et al. (2010) GJC2 missense mutations cause human lymphedema.
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| 3. |
Ostergaard P et al. (2011) Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
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| 4. |
Balboa-Beltran E et al. (2014) A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.
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| 5. |
OMIM.ORG article Omim 613480
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