LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis

• Główni autorzy: Kirsten M. Farncombe (Autor), Emily Thain (Autor), Carolina Barnett-Tapia (Autor), Hamid Sadeghian (Autor), Raymond H. Kim (Autor)
• Format: Książka
• Wydane: BMC, 2022-07-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract 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 strate...