A Progeroid Syndrome Caused by RAF1 deficiency Underscores the importance of RTK signaling for Human Development
Samantha Y. Wong, Yu Xuan Tan, Kiat Yi Tan, Abigail Loh, Zainab Aziz, Engin Özkan, Hülya Kayserili, Nathalie Escande‐Beillard, Bruno Reversade
A germline RAF1 mutation causes a neonatal lethal progeroid syndrome, highlighting RTK signaling's role in human development.
medRxiv · Feb 20, 2022 · PreprintGenetic & Genomic Medicine