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Bardet-Biedl综合征3例 被引量:5

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出处 《中国中医眼科杂志》 2008年第1期38-40,共3页 China Journal of Chinese Ophthalmology
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参考文献15

  • 1PATRICIA K. HRYNCHAK, OD, FAAO. Bardet - Biedl Syndrrome[ J ] Optometry and vision science, 2000, 77 (5) : 236 - 243.
  • 2Ruth Riise,Sten Andreasson, Margareta K Borgstr?,m et al. Intrafamilial variation of the phenotype in Bardet Biedl syndrome, [J]. British Journal of ophthalmology., 1997,81:378 - 385.
  • 3Moore S J,Green J S,Fan Y,et al.Clinical and genetic epidemiology of Bardet -Biedl Syndrome in Newfoundland:a22-year prospective,population based ,cohort study[J].Am J Med Genet A 2005,132(4):352-360.
  • 4Green J S, Parfrey P S, Harnett J D, et al. The cardinal manifestations of Bardet- Biedl syndrome, a form of Laurenec - Moon - Biedl syndrome [J]. N Engl J Med, 1989,321 : 1002 - 1009
  • 5P L Beales, N Elcioglu, A S Woolf, et al. New criteria for improved diagnosis of Bardet - Biedl syndrome results of a population survey [J]J Med Genet, 1999,36(6) :437 - 446.
  • 6Woods M O, Youg T L. Parfrey P S, et al. Genetic heterogeneity of Bardet -bicdl syndrome in a distinet Canadian population: evidence for a fifthlocus[ J]. Genomics, 1999,55 : 2 - 9.
  • 7Corinne Stoetzel, Jean Muller, Virginie Laurier, el al, Identification of a Novel BBS Gene(BBS12) Highights the Major Role of a Vertebrate- Specific Branch of Chaperonin - Related Proteins in Bardet - Biedl Syndrome [ J ]. The American Journal of Human Genetic, 2007,80 : 1 - 11.
  • 8赵秀琴 张军.眼综合症[M].北京:中国广播电视出版社,1995.199-200.
  • 9Nicholas Katsanis, James R Lupski , Philip L Beales. Exploring the moleculas basis of Bardet - Biedl syndrome [ J ]. Human Molecular Genetics, 2001,10(20) : 2293 - 2299.
  • 10Campo R V, Aaberg T M. Ocular anti systemic manifestations of the Bardet - Biedl syndrome [J]. Am J Ophalmol, 1982.94(6)750- 756.

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