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  • Title: Thrombocytopenia with absent radius in a boy and his uncle.
    Author: Schnur RE, Eunpu DL, Zackai EH.
    Journal: Am J Med Genet; 1987 Sep; 28(1):117-23. PubMed ID: 3314504.
    Abstract:
    We report a boy and his maternal uncle who have Thrombocytopenia-Absent Radius (TAR) syndrome. The mother of the propositus is normal. A maternal aunt has mild radial hypoplasia, possibly representing partial expression of the syndrome. A review of the literature shows several pedigrees in which relatives other than sibs were affected with TAR. Thus, autosomal recessive inheritance may not account for all cases and alternate modes of transmission should be considered.
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