Journal
CELL CYCLE
Volume 12, Issue 1, Pages 43-50Publisher
TAYLOR & FRANCIS INC
DOI: 10.4161/cc.23108
Keywords
RAS; HRAS; KRAS; NRAS; mutation; mosaic RASopathy; epidermal nevus; mosaicism; sebaceous nevus; epidermal nevus syndrome
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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.
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