Variant: rs1555801973 

    present in Gene: MKKS
    present in Chromosome: 20
    Position on Chromosome: 10412669
    Alleles of this Variant: -/T

rs1555801973 in MKKS gene and Overgrowth PMID 26762677 2016 Genetics of human Bardet-Biedl syndrome, an updates.

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

PMID 24608809 2014 Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.

PMID 10465109 1999 Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

PMID 22090721 2011 McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family.