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A heterozygot expression of a 'recessive' gene?

N Freire-Maia

    Human Heredity
    |January 1, 1975
    PubMed

    Abstract:

    An individual affected with severe bone reductions of the upper limbs, apparently due to an autosomal recessive gene, had eight normal children and then a child with absence of the right thumb and the correspondent metacarpal. This is supposed to be the result of a mild expression of the postulated gene in heterozygous state.

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