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GENATLAS PHENOTYPE

last update : 14/11/2008

Symbol	OI1A
Location	17q21.33
Name	osteogenesis imperfecta, types I et IA
Other name(s)	osteogenesis imperfecta tarda osteogenesis imperfecta with blue sclerae
Corresponding gene	COL1A1
Main clinical features	with dentinogenesis imperfecta
Genetic determination	autosomal dominant
Function/system disorder	connective tissue
Type	disease

Gene product

Name	collagen type I, alpha 1 (COL1A1)

Remark(s)