1.
Lecoquierre F, Punt M, Ebstein F, et al. A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder. Genetics in medicine : official journal of the American College of Medical Genetics. 2024:101119. doi:10.1016/j.gim.2024.101119.