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
Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.
Wu J et al.
Orphanet Journal of Rare Diseases, 2024
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
KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3.
Chen J et al.
Molecular Medicine Reports, 2016
[The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis].
Zhang JT et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2013
Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia.
Ying M et al.
Bmc Medical Genetics, 2013
[R954 mutations in KIF21A gene in Chinese patients with congenital fibrosis of extraocular muscles].
Li ND et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2012
[A family of congenital fibrosis of extraocular muscles associated with naso-sinusitis].
Zhou LH et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2012
KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.
Wang P et al.
International Journal of Molecular Medicine, 2011
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).
Yang X et al.
Molecular Vision, 2010
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.
Lu S et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2008
Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian Peninsula.
Khan AO et al.
Ophthalmic Genetics, 2008
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
Chan WM et al.
Bmc Genetics, 2007
Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.
Demer JL et al.
Investigative Ophthalmology & Visual Science, 2005
Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations.
Ali M et al.
Ophthalmic Genetics, 2004
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).
Yamada K et al.
Investigative Ophthalmology & Visual Science, 2004
Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.
Traboulsi EI
Transactions of the American Ophthalmological Society, 2004
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
Yamada K et al.
Nature Genetics, 2003
Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles.
Shimizu S et al.
Japanese Journal of Ophthalmology, 0
KIF21A Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran.
Ramahi M et al.
Avicenna Journal of Medical Biotechnology, 0