• Clin Exp Obstet Gyn · Jan 2016

    Review Case Reports

    Holt Oram syndrome: a case report and review of the literature.

    • G Virdis, M Dessole, S Dessole, G Ambrosini, E Cosmi, P L Cherchil, and G Capobianco.
    • Clin Exp Obstet Gyn. 2016 Jan 1; 43 (1): 137-9.

    AbstractHolt Oram syndrome is a rare autosomal dominant syndrome on average, of varying severity, which may result in heterogeneous pictures, predominantly with involvement of the bony segments of the upper limbs and the cardiovascular system. The syndrome is caused by mutations in two genes of the T-box (TBX5, 601 620 and TBX 3) located on the 12q24.1p. The authors report a case and review the literature.

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