Associated Papers
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.
Guguin J et al.
Plos Genetics, 2024
39680576 (PubMed )
Supplement: pgen.1011517.s011.xlsx › Table_S1
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
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
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
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
Kheradmand Kia S et al.
American Journal of Human Genetics, 2012
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