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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » A » Abnormalities, Multiple/ genetics/pathology

Abnormalities, Multiple/ genetics/pathology

Your search returns 2 documents

  • 1.   A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association

    These case reports discuss a novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association

    J Med Genet, Vol: 38 Page: 820-3 December 2001
    W. Reardon; X. P. Zhou; C. Eng

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  • 2.   Agenesis of the corpus callosum with interhemispheric cyst, hepatic haemangioma and trisomy 21

    This case report discusses agenesis of the corpus callosum with interhemispheric cyst, hepatic haemangioma and trisomy 21

    Clin Dysmorphol, Vol: 15 Page: 149-51 July 2006
    A. M. Murphy; C. Brenner; S. Ann Lynch

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