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Article

Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta.

Orphanet journal of rare diseases - 31 Mar 2020

Andersson Kristofer, Malmgren Barbro, Åström Eva, Nordgren Ann, Taylan Fulya, Dahllöf Göran

Abstract excerpt

BACKGROUND: 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...

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Identifiers

PMID: 32234057
DOI: 10.1186/s13023-020-01361-4
PMCID: PMC7110904

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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