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
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.
Chartier S et al.
Birth Defects Research, 2018
Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles.
Chen HY et al.
Nature Communications, 2017
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
Shamseldin H et al.
American Journal of Human Genetics, 2015
Select a paper to view details