Associated Papers
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
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Di Donato N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29671837 (PubMed )
Supplement: NIHMS934304-supplement-Supplementary_table_2.pdf
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
Brock S et al.
European Journal of Human Genetics : Ejhg, 2018
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