Ontology highlight
ABSTRACT:
SUBMITTER: Alanay Y
PROVIDER: S-EPMC2850430 | biostudies-literature | 2010 Apr
REPOSITORIES: biostudies-literature
Alanay Yasemin Y Avaygan Hrispima H Camacho Natalia N Utine G Eda GE Boduroglu Koray K Aktas Dilek D Alikasifoglu Mehmet M Tuncbilek Ergul E Orhan Diclehan D Bakar Filiz Tiker FT Zabel Bernard B Superti-Furga Andrea A Bruckner-Tuderman Leena L Curry Cindy J R CJ Pyott Shawna S Byers Peter H PH Eyre David R DR Baldridge Dustin D Lee Brendan B Merrill Amy E AE Davis Elaine C EC Cohn Daniel H DH Akarsu Nurten N Krakow Deborah D
American journal of human genetics 20100401 4
Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder that results from defects in the synthesis, structure, or posttranslational modification of type I procollagen. Dominant forms of OI result from mutations in COL1A1 or COL1A2, which encode the chains of the type I procollagen heterotrimer. The mildest form of OI typically results from diminished synthesis of structurally normal type I procollagen, whereas moderately severe to lethal forms of OI usually re ...[more]