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Irish Child Health Database - Peer Reviewed Papers

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

Abnormalities, Multiple/diagnosis/ genetics

Your search returns 2 documents

  • 1.   Bilateral optic disk swelling in the 4q34 deletion syndrome

    This case report discusses a case of 4q deletion syndrome, presenting with asymptomatic bilateral disk swelling

    J Aapos, Vol: 11 Page: 516-8 October 2007
    P. Connell; D. Brosnahan; A. Dunlop; W. Reardon

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  • 2.   Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency

    This case report discusses a case of neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency

    Eur J Paediatr Neurol, Vol: 8 Page: 55-9 2004
    M. A. Kurian; E. S. O'Mahoney; P. Rustin; G. Brown; E. P. Treacy; M. D. King

    [Preview] [Read]