Article
Severe Lymphatic Disorder Resolved With MEK Inhibition in a Patient With Noonan Syndrome and SOS1 Mutation.
Pediatrics - 1 Dec 2020
Dori Yoav, Smith Chris, Pinto Erin, Snyder Kristen, March Michael E, Hakonarson Hakon, Belasco Jean
Abstract excerpt
Noonan syndrome is a multiorgan system disorder mediated by genetic defects along the RASknown as RASopathies. It is the second most common syndromic cause of congenital heart disease and, in ∼20% of the cases, is associated with severe lymphatic disorders, including chylothorax and protein-losing enteropathy. Recently, we reported on the use of mitogen-activated protein kinase inhibition in a patient with an...
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