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

Abstract 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...

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Autors principals:	Kristofer Andersson, Barbro Malmgren, Eva Åström, Ann Nordgren, Fulya Taylan, Göran Dahllöf
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2020-03-01
Col·lecció:	Orphanet Journal of Rare Diseases
Matèries:	Genetics Hypodontia Mutation Tooth agenesis Tooth development
Accés en línia:	http://link.springer.com/article/10.1186/s13023-020-01361-4
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