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Article

Craniofacial and otic capsule abnormalities in a transgenic mouse strain with a Col2a1 mutation.

Journal of craniofacial genetics and developmental biology - 1 Jan 2000

Maddox B K, Garofalo S, Horton W A, Richardson M D, Trune D R

Abstract excerpt

Abnormal craniofacial features of a transgenic mouse model of chondrodysplasia with a type II collagen mutation (Gly574Ser) are described in this report. In addition to a shortened mandible and cleft palate, a misshapen otic capsule was observed. Interestingly, hearing impairment is often a component of the chondrodysplasia phenotype that results from mutations in COL2A1. To identify a potential mechanism in the...

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PMID: 10100048

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