Non-lethal OI III (OMIM 259420) is caused by structural aberrations of collagen I. We report four novel glycine substitutions, one in the Ξ± Ξ±1(I) chain of collagen I (G688S) and three in the Ξ± Ξ±2(I) chain (G241D, G247C, G883V). In each of two families (G241D and G883V), we found parental mosaicism f
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity
β Scribed by Sillence, D. O. ;Barlow, K. K. ;Cole, W. G. ;Dietrich, S. ;Garber, A. P. ;Rimoin, D. L. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 749 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0148-7299
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