Ontology highlight
ABSTRACT:
SUBMITTER: Morello R
PROVIDER: S-EPMC6133774 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Matrix biology : journal of the International Society for Matrix Biology 20180311
Osteogenesis imperfecta, or brittle bone disease, is a congenital disease that primarily causes low bone mass and bone fractures but it can negatively affect other organs. It is usually inherited in an autosomal dominant fashion, although rarer recessive and X-chromosome-linked forms of the disease have been identified. In addition to type I collagen, mutations in a number of other genes, often involved in type I collagen synthesis or in the differentiation and function of osteoblasts, have been ...[more]