Hereditäres Lymphödem Typ 1d
Milroy-ähnliches primäres Lymphödem ist eine autosomal dominante Erkrankung die durch trunkierende Mutationen im VEGFC-Gen hervorgerufen wird.
Gliederung
Referenzen:
| 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. [^] |
| 2. |
Villefranc JA et al. (2013) A truncation allele in vascular endothelial growth factor c reveals distinct modes of signaling during lymphatic and vascular development. [^] |
| 3. |
Finegold DN et al. (2001) Truncating mutations in FOXC2 cause multiple lymphedema syndromes. [^] |
| 4. |
Rezaie T et al. (2008) Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. [^] |
| 5. |
Emberger JM et al. (1979) [Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission]. [^] |
| 6. |
et al. () // [^] |
| 7. |
OSTERLAND G et al. (1961) [Observations on Nonne-Milroy-Meige syndrome]. [^] |
| 8. |
Avasthey P et al. (1968) Primary pulmonary hypertension, cerebrovascular malformation, and lymphoedema feet in a family. [^] |
| 9. |
Emerson PA et al. (1966) Yellow nails, lymphoedema, and pleural effusions. [^] |
| 10. |
Figueroa AA et al. (1983) Meige disease (familial lymphedema praecox) and cleft palate: report of a family and review of the literature. [^] |
| 11. |
Herbert FA et al. (1983) Hereditary late-onset lymphedema with pleural effusion and laryngeal edema. [^] |
| 12. |
Wheeler ES et al. (1981) Familial lymphedema praecox: Meige's disease. [^] |
| 13. |
Andersson HC et al. (1995) Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications. [^] |
