Variant: rs797044852 

    present in Gene: FKBP10
    present in Chromosome: 17
    Position on Chromosome: 41821027
    Alleles of this Variant: TG/-

rs797044852 in FKBP10 gene and Multiple congenital anomalies PMID 20362275 2010 Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

PMID 20696291 2010 FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

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

PMID 25931047 2015 Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.

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.

PMID 21567934 2011 Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.

PMID 22107750 2011 Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.