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先天性眼外肌广泛纤维化综合征 被引量:1

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摘要 先天性眼外肌广泛纤维化综合征江西省南昌市第一医院眼科(330008)江燕先天性眼外肌广泛纤维化综合症(Congenitageneralfibrosisofextraocularmusclarsyndrome)是一种双眼或单眼全部眼外肌的先天性肌肉筋膜...
作者 江燕
出处 《中国实用眼科杂志》 CSCD 1997年第4期246-247,共2页 Chinese Journal of Practical Ophthalmology
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  • 1Reck AC, Manners R, Hatchwell E. Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles. Br J Ophthalmol,1998,82:676-679.
  • 2Nakano M, Yamada K, Fain J, et al. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet,2001, 29:315-320.
  • 3Yamada K, Andrews C, Chan WM, et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet,2003,35:318-321.
  • 4Engle EC, Marondel I, Houtman WA, et al. Congenial fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia) genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet,1995,57:1086-1094.
  • 5Wang SM, Zwaan J, Mullaney JB, et al. Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet,1998,63:517-525.
  • 6Doherty EJ, Macy ME, Wang SM, et al. CFEOM3 a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest Ophthalmol Vis Sci,1999, 40:1687-1694.
  • 7Gillies WE, Harris AJ, Brooks AM, et al. Congenital fibrosis of the vertically acting extraocular muscles. Ophthalmology,1995,102:607-612.
  • 8Mackey DA,Chan WM,Chan C,et al. Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. Hum Genet,2002,110:510-512.
  • 9Simonsz HJ. Congenital fibrosis syndrome. J Pediatr Ophthalmol Strabismus,1990,27:328-329.
  • 10Gottlob I, Jain S, Engle EC. Elevation of one eye during tooth brushing. Am J Ophthalmol,2002,134:459-460.

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