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Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology July 2004

Identification of KIF21A Mutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)

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Koki Yamada; Wai-Man Chan; Caroline Andrews; Thomas M. Bosley; Emin C. Sener; Johan T. Zwaan; Paul B. Mullaney; Banu T. Öztürk; A. Nurten Akarsu; Louise J. Sabol; Joseph L. Demer; Timothy J. Sullivan; Irene Gottlob; Peter Roggenkäemper; David A. Mackey; Clara E. de Uzcategui; Nicolas Uzcategui; Bruria Ben-Zeev; Elias I. Traboulsi; Adriano Magli; Teresa de Berardinis; Vincenzo Gagliardi; Sudha Awasthi-Patney; Marlene C. Vogel; Joseph F. Rizzo, III; Elizabeth C. Engle
TAGS: phenotype, mutation, fibrosis, eyelid ptosis, muscle of orbit, ophthalmoplegia, genetic pedigree
Invest. Ophthalmol. Vis. Sci.. 2004; 45(7):2218-2223. doi: https://doi.org/10.1167/iovs.03-1413

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