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The infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression

Wu, D; Wang, SL; Oliveira, DV; Del Gaudio, F; Vanlandewijck, M; Lebouvier, T; Betsholtz, C; Zhao, J; Jin, SB; Lendahl, U; Karlstrom, H

Lendahl, U; Karlstrom, H (corresponding author), Karolinska Inst, Dept Neurobiol Care Sci & Soc, S-17177 Stockholm, Sweden.; Jin, SB; Lendahl, U (corresponding author), Karolinska Inst, Dept Cell & Mol Biol, S-17177 Stockholm, Sweden.; Lendahl, U (corresponding author), Karolinska Inst, Integrated Cardio Metab Ctr ICMC, S-14186 Huddinge, Sweden.

DISEASE MODELS & MECHANISMS, 2021; 14 (2):

Abstract

Infantile myofibromatosis (IMF) is a benign tumor form characterized by the development of nonmetastatic tumors in skin, bone, muscle and sometimes vi......

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