• 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; Ozturk, BT; Akarsu, AN; Sabol, LJ; Demer, JL; Sullivan, TJ; Gottlob, I; Roggenkaemper, 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; Engle, EC (Assoc Research Vision Ophthalmology Inc, 2004)
      PURPOSE. Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, ...