Associated Papers
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
Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to Management.
Xia W et al.
Children (basel, Switzerland), 2022
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
Jurgens JA et al.
European Journal of Human Genetics : Ejhg, 2021
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M et al.
Orphanet Journal of Rare Diseases, 2019
30744660 (PubMed )
Supplement: 13023_2019_1020_MOESM2_ESM.xlsx › allTUBA1A_missense
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