Nature Medicine
- 12, 283 - 285 (2006)
doi:10.1038/nm0306-283
Stops along the RAS pathway in human genetic diseaseMohamed Bentires-Alj, Maria I Kontaridis & Benjamin G Neel
The authors are in the Cancer Biology Program, Division of Hematology/Oncology, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02115, USA. Mohamed Bentires-Alj is also at the Laboratory of Medical Chemistry and Human Genetics, Center for Biomedical Integrative Genoproteomics, University of Liège, Domaine du Sart-Tilman 4000 Liège, Belgium. bneel@bidmc.harvard.edu
kanjiMutations in components of the RAS-MAPK pathway provide a unifying mechanism for several phenotypically overlapping, yet clinically distinct human 'neuro-cardio-facial-cutaneous' (NCFC) syndromes. These rare diseases may provide new insights into the regulation of this pathway and its role in various cancers.
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