
"RASopathies" are a group of developmental syndromes with partly overlapping clinical symptoms that are caused by germline mutations of genes within the Ras/MAPK signaling pathway. Mutations affecting this pathway can also occur in a mosaic state, resulting in congenital syndromes often distinct from those generated by the corresponding germline mutations. For syndromes caused by mosaic mutations of the Ras/MAPK signaling pathway, the term "mosaic RASopathies" has been proposed. In the following article, genetic and phenotypic aspects of mosaic RASopathies will be discussed.
Mitogen-Activated Protein Kinase Kinases, Mosaicism, Syndrome, Congenital Abnormalities, Neoplasms, ras Proteins, Humans, raf Kinases, Extracellular Signal-Regulated MAP Kinases, Germ-Line Mutation, Signal Transduction
Mitogen-Activated Protein Kinase Kinases, Mosaicism, Syndrome, Congenital Abnormalities, Neoplasms, ras Proteins, Humans, raf Kinases, Extracellular Signal-Regulated MAP Kinases, Germ-Line Mutation, Signal Transduction
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