Condition: OSTEOGENESIS IMPERFECTA, TYPE X


rs137853892 in SERPINH1 gene and OSTEOGENESIS IMPERFECTA, TYPE X PMID 20188343 2010 Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.