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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 28/08/2006 |
Symbol | OI2A | |||
Location | 17q21.33 | |||
Name | osteogenesis imperfecta, type II | |||
Corresponding gene | COL1A1 | |||
Main clinical features | congenital, lethal | |||
Genetic determination
Function/system disorder
| connective tissue | Type
| disease
| |
Gene product |
Name | collagen type I, alpha 1 (COL1A1) |
Remark(s) |