2Dollfus H, Verloes A, Bonneau D, et al. Update on Bardet- Biedl syndrome [ J ]. J Fr Ophtalmol,2005,28 ( 1 ) : 106-112.
3Nishimura D Y, Swiderski R E,Searby C C ,et al. Comparative Genomics and Gene Expression Analysis Identifies BBSg, a New Bardet-Biedl Syndrome Gene [ J ]. Am J Hum Genet, 2005,77(6) : 1021-1033.
4Stoetzel C, Laurier V ,Davis E E, et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus[ J ]. Nat Genet ,2006,38 ( 5 ) :521-524.
5Chiang A P,Beck J S,Yen H J,et al. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene ( BBS11 ) [ J ]. Proc Natl Acad Sci USA ,2006,103 ( 16 ) :6287-6292.
6Iannello S,Fagone S,Grasso G,et al. A case of familial Bardet-Biedl syndrome ( obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulinresistant diabetes mellitus [ J ]. Minerva Endoerinol, 1998,23 (3) :83-92.
7David A, Bitoun P, Lacombe D, et al. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes[J]. J Med Genet, 1999,36 (8) :599-603.
8Katsanis N, Ansley S J, Badano J L, et al. Triallelic inheritance in Bardet-Biedl syndrome,a Mendelian recessive disorder[ J ]. Science ,2001,293 ( 5538 ) : 2256-2259.
3GASCUE C, TAN P L, CARDENAS-RODRIGUEZ M, et al. Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation[J~. J Cell Sci, 2012, 125(Pt 2): 362-375.
4BELL J. The Laurence-Moon syndrome[M]//Penrose L S. The Treasury of Human Inheritance. Part llI. Volume 5. London: Cambridge University Press, 1958:51 96.
5GREEN J S, PARFREY P S, HARNETT J D, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Bled[ syndrome[J]. N Engl J Med, 1989, 321(15) : 1002-1009.
6BEALES P L, ELCIOGLU N, WOOLF A S, et al. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population surveyrJ~. J Med Genet, 1999, 36 (6) : 437-446.
7KLEIN D, AMMANN F. The syndrome of Laurence-Moon- Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies[J]. J Neuro[ Sci, 1969, 9(3) : 479-513.