Article
NRAS associated RASopathy and embryonal rhabdomyosarcoma.
American journal of medical genetics. Part A - 1 Jan 2020
Garren Benjamin, Stephan Mark, Hogue Jacob S
Abstract excerpt
RASopathies are a group of phenotypically overlapping disorders that arise from dysregulation of the RAS/MAPK pathway. These disorders include Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, and neurofibromatosis-Type 1. While somatic mutations in the three human Ras genes (KRAS, HRAS, and NRAS) are a common finding in a variety of cancers, germline mutations in each of the these genes cause...
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