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
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
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
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30214071 (PubMed )
Supplement: NIHMS1061370-supplement-1061370_Sup_MOESM2.xlsx › Sheet1
Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles.
Chen HY et al.
Nature Communications, 2017
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 Cause Primary Microcephaly and Primordial Dwarfism in Humans.
Shamseldin H et al.
American Journal of Human Genetics, 2015
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