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Keywords: Cardio-facio-cutaneous syndrome
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Journal Articles
Journal:
Disease Models & Mechanisms
Dis Model Mech (2024) 17 (6): dmm050609.
Published: 7 June 2024
... attributed. Summary: The mechanistic examination of the human condition combined with in vitro and in vivo modeling studies demonstrate how RAS pathway dysregulation in RASopathies affects mammalian skeletal muscle development. Cardio-facio-cutaneous syndrome Costello syndrome Myopathy...
Journal Articles
In collection:
The RAS Pathway
Rifdat Aoidi, Nicolas Houde, Kim Landry-Truchon, Michael Holter, Kevin Jacquet, Louis Charron, Suguna Rani Krishnaswami, Benjamin D. Yu, Katherine A. Rauen, Nicolas Bisson, Jason Newbern, Jean Charron
Journal:
Disease Models & Mechanisms
Dis Model Mech (2018) 11 (3): dmm031278.
Published: 13 March 2018
..., cardiac malformations, cutaneous abnormalities and developmental delay. Cardio-facio-cutaneous syndrome (CFC) is a rare RASopathy associated with mutations in BRAF , KRAS , MEK1 ( MAP2K1 ) and MEK2 ( MAP2K2 ). MEK1 and MEK2 mutations are found in ∼25% of the CFC patients and the MEK1 Y130C substitution...
Includes: Supplementary data