Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 23-04-2009

Symbol	OI3A
Location	17q21.33
Name	osteogenesis imperfecta, type III
Other name(s)	osteogenesis imperfecta, progressively deforming, with normal sclerae
Corresponding gene	COL1A1
Main clinical features	severe, non lethal
Genetic determination	autosomal recessive
	autosomal dominant
Function/system disorder	connective tissue
Type	disease

Gene product

Name	collagen type I,alpha 1 (COL1A1)

Remark(s)