Noonan syndrome-like disorder and juvenile myelomonocytic leukemia is caused by CBL mutations, fusion genes in particular. Inheritance pattern is autosomal dominant.
1. |
Loh ML et al. (2009) Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. |
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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. |
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Bülow L et al. (2015) Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. |
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OMIM.ORG article Omim 613563 |