Article
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
BMC medical genomics - 15 Jul 2022
Farncombe Kirsten M, Thain Emily, Barnett-Tapia Carolina, Sadeghian Hamid, Kim Raymond H
Abstract excerpt
BACKGROUND: 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,...
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