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Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene.
Gins C, Guimiot F, Drunat S, Prévost C, Rosenblatt J, Capri Y, Letard P, Khung-Savatovsky S, Mahi Henni MA, Elalaoui SC, Alison M, Guilmin Crepon S, Gressens P, Verloes A, Basto R, El Ghouzzi V, Passemard S. Gins C, et al. Neurol Genet. 2025 Mar 26;11(2):e200221. doi: 10.1212/NXG.0000000000200221. eCollection 2025 Apr. Neurol Genet. 2025. PMID: 40151166 Free PMC article.
Neurological outcome in WDR62 primary microcephaly.
Ruaud L, Drunat S, Elmaleh-Bergès M, Ernault A, Guilmin Crepon S; MCPH Consortium; El Ghouzzi V, Auvin S, Verloes A, Passemard S. Ruaud L, et al. Dev Med Child Neurol. 2022 Apr;64(4):509-517. doi: 10.1111/dmcn.15060. Epub 2021 Sep 25. Dev Med Child Neurol. 2022. PMID: 35726608 Free article.
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S. Nasser H, et al. J Med Genet. 2020 Jun;57(6):389-399. doi: 10.1136/jmedgenet-2019-106474. Epub 2020 Feb 3. J Med Genet. 2020. PMID: 32015000 Clinical Trial.