A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong, Alanna, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Paul C Lee, Li Q Zhang, et al. 2023. “A Mutational Hotspot in AMOTL1 Defines a New Syndrome of Orofacial Clefting, Cardiac Anomalies, and Tall Stature.”. American Journal of Medical Genetics. Part A 191 (5): 1227-39.