Wissenschaftliche Information:

Zusammenfassung: Dies is eines von 12 Genen, welche bei der Pathogenese des Bardet-Biedl-Syndroms eine Rolle spielen.

Methodik:

Literatur: 

Badano JL et al. (2003) Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
Beales PL et al. (2001) Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
Karmous-Benailly H et al. (2005) Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
Katsanis N et al. (2001) Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Katsanis N et al. (2000) Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
Slavotinek AM et al. (2002) Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
Slavotinek AM et al. (2000) Mutations in MKKS cause Bardet-Biedl syndrome.
Stone DL et al. (2000) Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.