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  • Title: Familial mandibuloacral dysplasia: report of an additional Italian patient.
    Author: Tudisco C, Canepa G, Novelli G, Dallapiccola B.
    Journal: Am J Med Genet; 2000 Sep 18; 94(3):237-41. PubMed ID: 10995511.
    Abstract:
    Mandibuloacral dysplasia is a rare condition. Only 11 families have been reported and five of them were Italian, while consanguinity was found only in one report. We describe an additional Italian patient born from consanguineous parents.
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