Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
Wongkittichote P, Choi TI, Kim OH, Riley K, Koeberl D, Narayanan V, Ramsey K, Balak C, Schwartz CE, Cueto-Gonzalez AM, et al. Clin Genet. 2023 Feb; 103(2):167-178. Epub 2022 Oct 31.