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An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen.
Shapiro JR, Stover ML, Burn VE, McKinstry MB, Burshell AL, Chipman SD, Rowe DW. Shapiro JR, et al. Among authors: burshell al. J Clin Invest. 1992 Feb;89(2):567-73. doi: 10.1172/JCI115622. J Clin Invest. 1992. PMID: 1737847 Free PMC article.
Guess the case from the ochsner clinic.
Brown RE, Scanlan MC, Burshell AL, Richardson WS. Brown RE, et al. Among authors: burshell al. Ochsner J. 2007 Winter;7(4):185-8. Ochsner J. 2007. PMID: 21603543 Free PMC article. No abstract available.