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

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 causativ...

Source: Orphanet Journal of Rare Diseases - March 31, 2020 Category: Internal Medicine Authors: Kristofer Andersson, Barbro Malmgren, Eva Åström, Ann Nordgren, Fulya Taylan and Göran Dahllöf Tags: Research Source Type: research