Article
RASopathies: unraveling mechanisms with animal models.
Disease models & mechanisms - 1 Aug 2015
Jindal Granton A, Goyal Yogesh, Burdine Rebecca D, Rauen Katherine A, Shvartsman Stanislav Y
Abstract excerpt
RASopathies are developmental disorders caused by germline mutations in the Ras-MAPK pathway, and are characterized by a broad spectrum of functional and morphological abnormalities. The high incidence of these disorders (∼1/1000 births) motivates the development of systematic approaches for their efficient diagnosis and potential treatment. Recent advances in genome sequencing have greatly facilitated the...
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