Clinical utility gene card for: Bardet–Biedl syndrome

Author:

Slavotinek Anne,Beales Philip

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference11 articles.

1. Beales PL, Badano JL, Ross AJ et al: Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet 2003; 72: 1187–1199.

2. Slavotinek AM : Bardet-Biedl syndrome; in Cassidy S, Allanson J (eds): Management of Genetic Syndromes. Oxford: Wiley Liss, 2010, 3rd edn, pp 111–127.

3. Leitch CC, Zaghloul NA, Davis EE et al: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet 2008; 40: 443–448.

4. Waters AM, Beales PL : Bardet-Biedl syndrome; in Pagon RA, Bird TC, Dolan CR, Stephens K (eds): GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle, 1993–2003 14 July [updated 22 July 2010].

5. Ammann F : Investigations cliniques et genetiques sur le syndrome de Bardet-Biedl en suisse. J Genet Hum 1970; 18: 1–310.

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