Associated Papers
Generation of the iPSC line CRNLi001-A from a patient with microcephaly and harbouring the most recurrent RTTN variant, c.2953A>G, at homozygous state.
Guguin J et al.
Stem Cell Research, 2026
Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene.
Gins C et al.
Neurology. Genetics, 2025
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.
Guguin J et al.
Plos Genetics, 2024
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.
Romano F et al.
Frontiers in Pediatrics, 2023
38178912 (PubMed )
Supplement: Datasheet1.pdf
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Duerinckx S et al.
Molecular Genetics & Genomic Medicine, 2021
Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly.
Imran Naseer M et al.
Saudi Journal of Biological Sciences, 2021
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Oegema R et al.
Nature Reviews. Neurology, 2020
32895508 (PubMed )
Supplement: 41582_2020_395_MOESM1_ESM.pdf
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Vandervore LV et al.
Brain : a Journal of Neurology, 2019
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
Cavallin M et al.
European Journal of Medical Genetics, 2018
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.
Grandone A et al.
Clinical Genetics, 2016
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