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GENATLAS PHENOTYPE
last update : 23-04-2009
Symbol OI3B
Location 7q21.3
Name osteogenesis imperfecta, type III
Corresponding gene COL1A2
Main clinical features severe, non lethal
Genetic determination autosomal dominant
autosomal recessive
Function/system disorder connective tissue
Type disease
Gene product
Name collagen type I,alpha 2 (COL1A2)
Remark(s)