Associated Papers
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.
Urreizti R et al.
American Journal of Medical Genetics. Part A, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
Craniosynostosis Associated With Novel TUBG1 Mutation (NM_001070.4:c.821C>T) (p.Thr274Ile).
Ash AS et al.
Cureus, 2024
A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development.
Shen R et al.
Biomed Research International, 2021
Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations.
Yuen YTK et al.
Bmc Medical Genetics, 2019
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