Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies
Adeline Jacquinet, Lydie C. Flasse, Manon Dohet, Romane Vanhaeren, Hélène Pendeville, Carol Saunders, Anna Lehman, Catherine Pienkowski, Karine Morcel, Daniel Guerrier, Vincent Bours, Bernard Peers
The paper identifies NR6A1 variants as a cause of congenital renal, vertebral, and uterine anomalies through clinical and zebrafish model studies.
medRxiv · Jan 8, 2025 · PreprintGenetic & Genomic Medicine