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  • Title: [Genetic study of eight cases of spondylo-epiphyseal dysplasia tarda and its autosomal recessive transmission].
    Author: Chaabouni H, Douiri H, Abdelkefi MM, Miladi M, Slimane N, Ferchiou A.
    Journal: J Genet Hum; 1986 Aug; 34(3-4):275-84. PubMed ID: 3760831.
    Abstract:
    Spondylo-epiphyseal dysplasia tarda is an hereditary disease of bone first described by Maroteaux in 1957. The disease affects only boys, then is transmitted on X-linked recessive pattern. The authors describe two tunisians families with 8 patients presenting clinical and radiologic symptoms resembling spondylo-epiphyseal dysplasia tarda but affecting both sexes. Autosomal recessive inheritance is probable in these families. Conclusion is that genetic heterogeneity of the disease must be precise.
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