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https://www.selleckchem.com/pr....oducts/Tretinoin(Abe
Noonan syndrome (NS) is a genetic disorder characterized by developmental delays, typical facial gestalt and cardiovascular defects. LZTR1 variants have been recently described in patients with NS and schwannomatosis, but the association, inheritance pattern and management strategy has not been fully elucidated. Here, we review the contribution of LZTR1 in NS and describe a patient with a novel, likely pathogenic variant in LZTR1. A female patient was diagnosed with clinical NS at 8months of age. She presented in adulthood wh