Zahra Ali Chao Xing Didar Anwar Kamel Itani David Weakley Xin Gong Juan M Pascual V Vinod Mootha
Mol Vis
2014 Mar 28;20:368-75.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/24715754/
Eye Diseases, Hereditary / genetics Fibrosis / genetics Kinesins / genetics Mobius Syndrome / genetics Mutation / genetics Ocular Motility Disorders / genetics
Eye Diseases, Hereditary / genetics Fibrosis / genetics Kinesins / genetics Mobius Syndrome / genetics Mutation / genetics Ocular Motility Disorders / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Amino Acid Sequence Base Sequence Child Conserved Sequence DNA Mutational Analysis Eye Diseases, Hereditary / physiopathology Female Fibrosis / physiopathology Fixation, Ocular Humans Kinesins / chemistry Magnetic Resonance Imaging Mobius Syndrome / physiopathology Molecular Sequence Data Ocular Motility Disorders / physiopathology KIF21A protein, human Kinesins Fibrosis of Extraocular Muscles, Congenital, 3B
PMC3976685
24715754
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome
2014