Article
Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta.
The American journal of otology - 1 Sept 1998
McKenna M J, Kristiansen A G, Bartley M L, Rogus J J, Haines J L
Abstract excerpt
HYPOTHESIS: Otosclerosis is related to mild osteogenesis imperfecta with genetic defects in type I collagen. BACKGROUND: Otosclerosis is a common bone disease of the human otic capsule that has an underlying hereditary predisposition. The histopathology and clinical manifestations are strikingly similar to the milder forms of osteogenesis imperfecta in which mutations of type I collagen genes have been...
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