Associated Papers
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
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
Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.
Cheng L et al.
Neuron, 2014
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
[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
[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
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
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
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