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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » C » Craniofacial Abnormalities/complications/ genetics/pathology

Craniofacial Abnormalities/complications/ genetics/pathology

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  • 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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