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Review
. 2013 Jan 1;12(1):43-50.
doi: 10.4161/cc.23108. Epub 2012 Dec 19.

Mosaic RASopathies

Christian Hafner  1 , Leopold Groesser
Affiliations
Review

Mosaic RASopathies

Christian Hafner et al. Cell Cycle. .

Abstract

"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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