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  • Title: Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism?
    Author: Zackai EH, Robin NH, McDonald-McGinn DM.
    Journal: Am J Med Genet; 1997 Apr 14; 69(4):348-51. PubMed ID: 9098480.
    Abstract:
    Cleidocranial dysplasia (CCD) is classically an autosomal dominant disorder. However, the possibility of an autosomal recessive form of CCD has been suggested based on a report of 2 consanguineous families, one with a single affected child, the second with affected sibs, born to normal parents. We present a family with sibs with CCD born to normal parents, and suggest germ line mosaicism as the more likely mechanism for this occurrence.
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