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  • Title: Intrafamilial clinical variability in type C brachydactyly.
    Author: Debeer P, De Smet L, Fryns JP.
    Journal: Genet Couns; 2001; 12(4):353-8. PubMed ID: 11837604.
    Abstract:
    Intrafamilial clinical variability in type C brachydactyly: In this report we describe a 4-generation family in which three members present variable clinical and radiological manifestations of brachydactyly type C. The observation of 'skipped generations' in the present family and in a few other families reported previously, may indicate that brachydactyly type C is not a true autosomal dominant condition due to mutations in a single gene.
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