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  • Title: Christ-Siemens-Touraine syndrome--a clinical and genetic analysis of a large Brazilian kindred: III. Carrier detection.
    Author: Pinheiro M, Freire-Maia N.
    Journal: Am J Med Genet; 1979; 4(2):129-34. PubMed ID: 517572.
    Abstract:
    Detection of carriers of the Christ-Siemens-Touraine syndrome on the basis of data of physical examination has been possible in about 60--70% of the cases reported in 44 papers, including a large Brazilian kindred studied by the authors. Partial data, however, showed detection values ranging from 42% to 84%.
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