Condition: Bruck syndrome 1


rs387906960 in FKBP10 gene and Bruck syndrome 1 PMID 20839288 2011 Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.

PMID 22949511 2013 Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.