Condition: Kaufman-McKusick syndrome


rs281797258 in MKKS gene and Kaufman-McKusick syndrome PMID 10802661 2000 Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

PMID 28753627 2017 Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.

PMID 28753627 2017 In support, we find that the McKusick-Kaufman syndrome disease-associated allele, BBS6H84Y; A242S, maintains cilia function.

PMID 18094050 2008 MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.