Neurocutaneous disorders and mosaic rasopathies encompass a heterogeneous group of conditions in which developmental mutations acquired after fertilisation give rise to a spectrum of clinical ...
When the NF1 gene was discovered in 1990, it was quickly learned that the gene product functions as a regulator of a protein called Ras. Ras is a key component of a cell signaling pathway that ...
In the battle to help their children suffering from RASopathies, parents from the Syngap Elternhilfe association initiated a network that is now active across Europe and funded by the European Union: ...
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