Associated Papers
Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.
Hwang S et al.
Journal of Human Genetics, 2026
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
TUBB3 and KIF21A in neurodevelopment and disease.
Puri D et al.
Frontiers in Neuroscience, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
A Novel De Novo TUBB3 Variant Causing Developmental Delay, Epilepsy and Mild Ophthalmological Symptoms in a Chinese Child.
Xue J et al.
Journal of Molecular Neuroscience : Mn, 2022
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Whitman MC et al.
Human Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.
Smith SC et al.
American Journal of Medical Genetics. Part A, 2020
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Dentici ML et al.
American Journal of Medical Genetics. Part A, 2020
Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant.
Thomas MG et al.
The British Journal of Ophthalmology, 2020
Distinct effects of tubulin isotype mutations on neurite growth in Caenorhabditis elegans.
Zheng C et al.
Molecular Biology of the Cell, 2017
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
Whitman MC et al.
American Journal of Medical Genetics. Part A, 2016
Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles.
Ceylan AC et al.
Ophthalmic Genetics, 0