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Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).
Yamada K, Chan WM, Andrews C, Bosley TM, Sener EC, Zwaan JT, Mullaney PB, Oztürk BT, Akarsu AN, Sabol LJ, Demer JL, Sullivan TJ, Gottlob I, Roggenkäemper P, Mackey DA, De Uzcategui CE, Uzcategui N, Ben-Zeev B, Traboulsi EI, Magli A, de Berardinis T, Gagliardi V, Awasthi-Patney S, Vogel MC, Rizzo JF 3rd, Engle EC. Yamada K, et al. Among authors: bosley tm. Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2218-23. doi: 10.1167/iovs.03-1413. Invest Ophthalmol Vis Sci. 2004. PMID: 15223798
Mitochondrial DNA abnormalities in NAION.
Abu-Amero KK, Bosley TM. Abu-Amero KK, et al. Among authors: bosley tm. Br J Ophthalmol. 2007 Nov;91(11):1561. doi: 10.1136/bjo.2007.115089. Br J Ophthalmol. 2007. PMID: 17947273 Free PMC article. No abstract available.
186 results