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Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome

Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature

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Abstract

Major diagnostic criteria for the Rud syndrome are ichthyosis, hypogonadism, mental retardation, and epilepsy. Two unrelated patients are presented and compared with 28 reported cases.

Genetical heterogeneity of the Rud syndrome is suggested by differences in clinical features, histological and endocrinological findings, steroid sulfatase activity, and modes of inheritance.

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Author notes

  1. M. Münke

    Present address: Department of Human Genetics, Yale University School of Medicine, 333 Cedar St., 06510, New Haven, CT, USA

  2. K. Kruse

    Present address: Department of Pediatrics, University of Würzburg, D-8700, Würzburg, Federal Republic of Germany

Authors and Affiliations

  1. Department of Pediatrics, University of Kiel, D-2300, Kiel, Federal Republic of Germany

    M. Münke, K. Kruse & M. Tolksdorf

  2. Department of Dermatology, University of Kiel, D-2300, Kiel, Federal Republic of Germany

    M. Goos

  3. Institute of Human Genetics and Anthropology, University of Freiburg, D-7800, Freiburg, Federal Republic of Germany

    H. H. Ropers

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  1. M. Münke
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  4. H. H. Ropers
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  5. M. Tolksdorf
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Münke, M., Kruse, K., Goos, M. et al. Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Eur J Pediatr 141, 8–13 (1983). https://doi.org/10.1007/BF00445661

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  • DOI: https://doi.org/10.1007/BF00445661

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