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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)