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Macrocephaly? Do not Forget SUFU.
Rijckmans E, Bordon V, de Ravel T, Baert E, Jansen AC, Stouffs K. Rijckmans E, et al. Pediatr Neurol. 2024 Feb;151:34-36. doi: 10.1016/j.pediatrneurol.2023.11.004. Epub 2023 Nov 25. Pediatr Neurol. 2024. PMID: 38101305 No abstract available.
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Banka S, Bennington A, Baker MJ, Rijckmans E, Clemente GD, Ansor NM, Sito H, Prasad P, Anyane-Yeboa K, Badalato L, Dimitrov B, Fitzpatrick D, Hurst ACE, Jansen AC, Kelly MA, Krantz I, Rieubland C, Ross M, Rudy NL, Sanz J, Stouffs K, Xu ZL, Malliri A, Kazanietz MG, Millard TH. Banka S, et al. Among authors: rijckmans e. Brain. 2022 Dec 19;145(12):4232-4245. doi: 10.1093/brain/awac049. Brain. 2022. PMID: 35139179 Free PMC article.