Associated Papers
Clinical and MRI differences in congenital fibrosis of extraocular muscles patients with KIF21A and TUBB3 variants.
Wang D et al.
Japanese Journal of Ophthalmology, 2026
Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families.
Chen M et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023
TUBB3 and KIF21A in neurodevelopment and disease.
Puri D et al.
Frontiers in Neuroscience, 2023
Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders.
Jia H et al.
Orphanet Journal of Rare Diseases, 2022
KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.
Al-Haddad C et al.
Ophthalmic Genetics, 2021
Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1.
Chen H et al.
Medicine, 2017
Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations.
Bianchi S et al.
Scientific Reports, 2016
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome.
Ali Z et al.
Molecular Vision, 2014
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