Das hereditäre Lymphödem Typ 1c ist eine autosomal dominante Erkrankung, die durch Mutationen im GJC2-Gen hervorgerufen wird.
2. |
Ferrell RE et al. (2010) GJC2 missense mutations cause human lymphedema. |
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. |
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. |
5. |
OMIM.ORG article Omim 613480 |