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GENATLAS PHENOTYPE
last update : 28/08/2006
Symbol OI1B
Location 7q21.3
Name osteogenesis imperfecta, types I and IA
Other name(s) dentinogenesis imperfecta tarda
Corresponding gene COL1A2
Main clinical features bone fragility and blue sclerae
Genetic determination
Function/system disorder connective tissue
Type disease
Gene product
Name collagen type I, alpha 2 (COL1A2)