Emberger-Syndrom
Das Emberger-Syndrom ist eine autosomal dominante Erkrankung mit Lymphödem schwerhörigkeit und Myelodysplasie, die durch Mutationen im GATA2-Gen hervorgerufen wird.
Gliederung
Referenzen:
| 1. |
Mansour S et al. (2010) Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. [^] |
| 2. |
Ostergaard P et al. (2011) Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). [^] |
| 3. |
Emberger JM et al. (1979) [Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission]. [^] |
| 4. |
Attal M et al. (1985) [Association of idiopathic lymphedema and familial acute leukemia. Apropos of a new case]. [^] |
| 5. |
OMIM.ORG article Omim 614038 [^] |
| 6. |
Orphanet article Orphanet ID 3226 [^] |
Update: 9. Mai 2019
