Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta | Orphanet Journal of Rare Diseases | Full Text

Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta | Orphanet Journal of Rare Diseases | Full Text

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...

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

Citation:Orphanet Journal of Rare Diseases 2020 15:80

Content type:Research

Published on: 31 March 2020

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