Forkhead box R1-mediated stress response linked to a case of human microcephaly and brain atrophy
Andressa Mota, Rui Hong, Sheng-Yong Niu, Féodora L. Bertherat, Lynne A. Wolfe, Christine May Malicdan, Thomas C. Markello, David R. Adams, William Allen Gahl, Christine S. Cheng, Uwe Beffert, Angela Ho
The paper identifies a de novo FOXR1 variant causing microcephaly and brain atrophy by impairing stress response pathways.
bioRxiv · Nov 3, 2020 · PreprintMolecular Biology