Noonan-Syndrom ähnliches Krankheitsbild und juvenile myelomonozytische Leukämie wird durch Mutationen im CBL-Gen hervorgerufen, insbesondere durch Fusionsgene. Die Vererbung ist autosomal dominant.
1. |
Loh ML et al. (2009) Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. |
2. |
Pérez B et al. (2010) Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. |
3. |
Martinelli S et al. (2010) Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. |
4. |
Niemeyer CM et al. (2010) Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. |
5. |
Bülow L et al. (2015) Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. |
6. |
OMIM.ORG article Omim 613563 |