RT Journal Article
SR Electronic
A1 Parry, Nicola
T1 What's New in Osteogenesis Imperfecta?
JF MD Conference Express
YR 2013
FD SAGE Publications
VO 13
IS 10
SP 23
OP 24
DO 10.1177/155989771310011
UL http://mdc.sagepub.com/content/13/10/23.abstract
AB This article discusses the pathophysiology of osteogenesis imperfecta (OI), in particular in relation to some rare, recessive forms of the condition. Although historically considered a collagen-related condition, predominantly due to mutations in genes that encode the alpha chains of collagen type I, mutations in various noncollagenous genes have also more recently been discovered to cause some forms of OI.