Condition: OSTEOGENESIS IMPERFECTA, TYPE XIII
rs318240762 in
BMP1 gene and
OSTEOGENESIS IMPERFECTA, TYPE XIII
PMID 22052668 2012 Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.
PMID 25402547 2015 Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
PMID 22482805 2012 Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.