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. 1984 Nov;36(6):1172–1179.

Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta.

P Tsipouras, A L Børresen, L A Dickson, K Berg, D J Prockop, F Ramirez
PMCID: PMC1684641  PMID: 6097110

Abstract

Mild osteogenesis imperfecta (OI type I and OI type IV) is characterized by postnatal onset of fractures, absence of skeletal deformity, presenile hearing loss with or without blue sclerae, and dentinogenesis imperfecta. Using one common DNA polymorphism associated with the pro alpha 2(I) human collagen gene, we found genetic heterogeneity in this disorder. In three families, the OI phenotype segregated independently of the DNA polymorphism, whereas in one family, the OI phenotype cosegregated with a DNA polymorphism in a manner suggesting linkage. Use of DNA polymorphisms associated with both type I procollagen genes should provide a tool to unravel the molecular heterogeneity of various heritable disorders of the connective tissue.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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