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Autor:
Anna-Grete Juchnewitsch, Kristjan Pomm, Avirup Dutta, Erik Tamp, Anu Valkna, Kristiina Lillepea, Eisa Mahyari, Stanislav Tjagur, Galina Belova, Viljo Kübarsepp, Helen Castillo-Madeen, Antoni Riera-Escamilla, Lisanna Põlluaas, Liina Nagirnaja, Olev Poolamets, Vladimir Vihljajev, Mailis Sütt, Nassim Versbraegen, Sofia Papadimitriou, Robert I. McLachlan, Keith A. Jarvi, Peter N. Schlegel, Sven Tennisberg, Paul Korrovits, Katinka Vigh-Conrad, Moira K. O’Bryan, Kenneth I. Aston, Tom Lenaerts, Donald F. Conrad, Laura Kasak, Margus Punab, Maris Laan
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
RASopathies are syndromes caused by congenital defects in the Ras/mitogen-activated protein kinase (MAPK) pathway genes, with a population prevalence of 1 in 1,000. Patients are typically identified in childhood based on diverse characteristic featur
Externí odkaz:
https://doaj.org/article/a5a26794d89e45529badd269302ae0fc
