Ontology highlight
ABSTRACT:
SUBMITTER: Andersson K
PROVIDER: S-EPMC7110904 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Orphanet journal of rare diseases 20200331 1
<h4>Background</h4>Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by an increased tendency for fractures throughout life. Autosomal dominant (AD) mutations in COL1A1 and COL1A2 are causative in approximately 85% of cases. In recent years, recessive variants in genes involved in collagen processing have been found. Hypodontia (< 6 missing permanent teeth) and oligodontia (≥ 6 missing permanent teeth) have previously been reported in individuals with OI. T ...[more]