Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta.

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...

Topics

Alleles
Haplotypes
Humans
Osteogenesis Imperfecta
Otosclerosis
Point Mutation
Polymerase Chain Reaction
Polymorphism, Genetic

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