TAR syndrome causal gene RBM8A is critical for embryonic bone development and proper Hedgehog signaling
Jennifer Mott, Zifei Pei, Jiawan Sun, Choong H. Lee, Twishi Puri, Zander M Sachs, Ana Aviles Vargas, Nicholas Blaha, Mabel M. B. Tong, Aimin Liu, Yong Wang, Y S Kim, Santhosh Girirajan, Jiangyang Zhang, Yingwei Mao
This study shows that RBM8A is essential for bone development and Hedgehog signaling, with its deficiency causing skeletal defects and impaired endochondral ossification.
bioRxiv · Apr 23, 2026 · PreprintDevelopmental Biology