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
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
Cavallin M et al.
European Journal of Medical Genetics, 2018
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
Wambach JA et al.
Pediatric Research, 2018
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.
Chartier S et al.
Birth Defects Research, 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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