Bardet-Biedl Syndrome

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Yang, C. Bardet-Biedl Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4921 (accessed on 26 September 2026).

Yang C. Bardet-Biedl Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4921. Accessed September 26, 2026.

Yang, Catherine. "Bardet-Biedl Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4921 (accessed September 26, 2026).

Yang, C. (2020, December 24). Bardet-Biedl Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4921

Yang, Catherine. "Bardet-Biedl Syndrome." Encyclopedia. Web. 24 December, 2020.

Bardet-Biedl Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome

Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

genetic conditions

References

Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, LerouxMR, Beales PL, Katsanis N. Basal body dysfunction is a likely cause ofpleiotropic Bardet-Biedl syndrome. Nature. 2003 Oct 9;425(6958):628-33.
Baker K, Beales PL. Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):281-95. doi:10.1002/ajmg.c.30231. Review.
Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria forimproved diagnosis of Bardet-Biedl syndrome: results of a population survey. JMed Genet. 1999 Jun;36(6):437-46.
Beales PL. Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. CurrOpin Genet Dev. 2005 Jun;15(3):315-23. Review.
Forsyth RL, Gunay-Aygun M. Bardet-Biedl Syndrome Overview. 2003 Jul 14[updated 2020 Jul 23]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1363/
Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, ScamblerPJ, Davidson WS, Beales PL, Lupski JR. Triallelic inheritance in Bardet-Biedlsyndrome, a Mendelian recessive disorder. Science. 2001 Sep 21;293(5538):2256-9.
Katsanis N. The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet.2004 Apr 1;13 Spec No 1:R65-71.
Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S,Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N,Odent S, Green J, Cossée M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O,Mandel JL, Dollfus H. Identification of 28 novel mutations in the Bardet-Biedlsyndrome genes: the burden of private mutations in an extensively heterogeneousdisease. Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9.
Tobin JL, Beales PL. Bardet-Biedl syndrome: beyond the cilium. PediatrNephrol. 2007 Jul;22(7):926-36.
Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, amodel ciliopathy. J Clin Invest. 2009 Mar;119(3):428-37. doi: 10.1172/JCI37041.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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