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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Marfan's syndrome: the S. family re-visited

D BOWERS

    Canadian Medical Association Journal
    |August 24, 1963
    PubMed

    Marfan's syndrome has been transmitted by a single pleiotropic autosomal gene through six generations of a Canadian family. At least 42 members of this family have been affected to date. The natural history of this inherited affliction in this family supports the hypothesis that Marfan's syndrome is an abiotropic disorder of the connective tissues. Premature degeneration of the connective tissues is responsible for the serious ocular and cardiovascular complications of Marfan's syndrome, for the shortened life span of affected individuals, and indirectly, for the economic distress of affected members of this family. Because no definitive treatment is available for Marfan's syndrome, an educational approach to the restriction of child-bearing by affected individuals is proposed.

    Keywords:
    ARACHNODACTYLY

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