Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy
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DOI: 10.1002/humu.23767
Abstract: SHOC2 is a scaffold protein mediating RAS‐promoted activation of mitogen‐activated protein kinase (MAPK) signaling in response to extracellular stimuli. A recurrent activating mutation in SHOC2 (p.Ser2Gly) causes Mazzanti syndrome, a RASopathy characterized by features resembling… read more here.
Keywords: causing shoc2; rasopathy causing; associated prenatal; shoc2 mutation ... See more keywords