Biblio
Journal Article
Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh T-C, Vijayananth A, Buchert R, et al. ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations. Brain. 2024.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DGm, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, et al. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. J Clin Invest. 2023.