Bardet-Biedl综合征1例

郑湘榕,尹飞,黄榕,向秋莲

中国当代儿科杂志 ›› 2011, Vol. 13 ›› Issue (7) : 602-603.

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中国当代儿科杂志 ›› 2011, Vol. 13 ›› Issue (7) : 602-603.
病例报告

Bardet-Biedl综合征1例

  • 郑湘榕,尹飞,黄榕,向秋莲
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A case report of Bardet-Biedl syndrome

  • ZHENG Xiang-Rong, YIN Fei, HUANG Rong, XIANG Qiu-Lian
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郑湘榕,尹飞,黄榕,向秋莲. Bardet-Biedl综合征1例[J]. 中国当代儿科杂志. 2011, 13(7): 602-603
ZHENG Xiang-Rong, YIN Fei, HUANG Rong, XIANG Qiu-Lian. A case report of Bardet-Biedl syndrome[J]. Chinese Journal of Contemporary Pediatrics. 2011, 13(7): 602-603
中图分类号: R596.1   

参考文献

[1]Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey[J]. J Med Genet, 1999, 36(6):437-446.

[2]Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, et al. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease[J]. Hum Genet, 2010, 127(5):583-593.

[3]Lee JE, Gleeson JG.Cilia in the nervous system: linking cilia function and neurodevelopmental disorders[J]. Curr Opin Neurol, 2011, 24(2):98-105.

[4]Katsanis N, Lupski JR, Beales PL.Exploring the molecular basis of Bardet-Biedl syndrome[J]. Hum Mol Genet, 2001, 10(20): 2293-2299.

[5]Putoux A, Attie-Bitach T, Martinovic J, Gubler MC. Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney[J]. Pediatr Nephrol, 2011 Jan 19.[Epub ahead of print]

[6]Andrade LJ, Andrade R, Franca CS, Bittencourt AV. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review[J]. Arq Bras Oftalmol, 2009, 72(5): 694-696.

[7]Riise R, Andreasson S, Borgastrom MK, Wright AF, Tommerup N, Rosenberg T, et al. Intrafamilial variation of the phenotype in Bardet-Biedl syndrome[J]. Br J Ophthalmol, 1997, 81(5): 378-385.

[8]Aloulou H, Cheikhrouhou H, Belguith N, Ben Ameur S, Ben Mansour L, Chabchoub I, et al. Bardet  Biedl syndrome in the child. A study about 11 cases[J].Tunis Med, 2011, 89(1): 31-36.

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