Review
Open access
Aug 2026
From amino acids to animal models: MAP2K2 mutations and their role in pathogenesis of CFC4 Syndrome
Cardio-facio-cutaneous syndrome type 4 (CFC4) is a rare RASopathy caused by germline mutations in the MAP2K2 gene, which encodes the MEK2 protein - a key kinase in the Ras/MAPK signaling pathway. Although the Ras/MAPK cascade has been widely studied due to its essential role in development and its implication...
K. Kurowska, Katarzyna Sawicka, Małgorzata Borczyk et al.
· Orphanet Journal of Rare Dis... · 0 citations