Article

LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome

2023-01-10

Abstract excerpt

Noonan syndrome patients harboring causative variants in LZTR1 are particularly at risk to develop severe and early-onset hypertrophic cardiomyopathy. However, the underling disease mechanisms of LZTR1 missense variants driving the cardiac pathology are poorly understood. Hence, therapeutic options for Noonan syndrome patients are limited. In this study, we investigated the mechanistic consequences of a novel ho...

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Literature Corpus work: 6993e01d-a24a-5103-b279-cef3b680cd06
DOI: 10.1101/2023.01.10.523203

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