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GENATLAS PHENOTYPE
last update : 28/08/2006
Symbol OI4A
Location 17q21.33
Name osteogenesis imperfecta, type IV
Other name(s) osteogenesis imperfecta with normal sclerae
Corresponding gene COL1A1
Other symbol(s) OI4
Main clinical features moderately severe
Genetic determination autosomal dominant
Function/system disorder connective tissue
Type disease
Gene product
Name collagen type I,alpha 1 (COL1A1)
Remark(s)