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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » C » Chromosomes, Human, Pair 9/genetics

Chromosomes, Human, Pair 9/genetics

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  • 1.   Early onset of Friedreich's ataxia in a compound heterozygote

    This case report discusses an unusual form of "pseudodominant" inheritance to illustrate how a diagnosis of Friedreich's ataxia in a parent does not preclude the diagnosis in the child.

    Arch Dis Child, Vol: 83 Page: 74-5 July 2000
    M. C. McGovern; M. Stewart; P. J. Morrison; D. Webb; S. Hawkins

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