GeneticsbioRxivPreprint
A Novel Patient-Derived Mutation in Glucocorticoid Receptor Reveals an Essential Role for DNA binding in Development and Endocrine Regulation
Theophilus T. Tettey, Qizong Lao, Sonal Vaid…·Gordon L. Hager
The paper identifies a novel GR mutation causing partial glucocorticoid resistance and shows its impact on development and endocrine regulation through patient-derived cells and a knock-in mouse model.
DOI 10.64898/2025.12.12.693739