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
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
Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations.
Bianchi S et al.
Scientific Reports, 2016
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
[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
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.
Khan AO et al.
Ophthalmology, 2010
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
KIF21A Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran.
Ramahi M et al.
Avicenna Journal of Medical Biotechnology, 0
Select a paper to view details