Defining RASopathy

The term RASopathy was originally created to describe a phenotypically similar group of medical genetic syndromes caused by germline pathogenic variants in components of the RAS/mitogen-activated protein kinase (RAS/MAPK) pathway. In defining a RASopathy syndrome, one needs to consider the complex n...

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Bibliographic Details
Main Author: Katherine A. Rauen
Format: Article
Language:English
Published: The Company of Biologists 2022-02-01
Series:Disease Models & Mechanisms
Online Access:http://dmm.biologists.org/content/15/2/dmm049344