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A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

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Figure 1: Mutation in the SF-1 DNA-binding domain.
Figure 2: Functional analyses of mutant SF-1.

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Acknowledgements

We thank G. Chrousos, M. Ramayya, K. Morohashi, C.G.D. Brook, E.J. Lee, R. Yu, L. Sabacan and T. Kotlar. J.C.A. acknowledges funding from the Special Trustees of the Middlesex Hospital and Endocrine Fellows Foundation. This work was performed as part of the National Cooperative Program for Infertility Research (NIH grant U54-HD-29164) and PO1 HD21921.

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Authors and Affiliations

  1. Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University Medical School, 303 East Chicago Avenue, Chicago, 60611, Illinois, USA

    John C. Achermann, Masafumi Ito, Mika Ito & J. Larry Jameson

  2. London Centre for Paediatric Endocrinology, University College London, Cobbold Laboratories, Mortimer Street, London, W1N 8AA, UK

    Peter C. Hindmarsh

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  1. John C. Achermann
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  2. Masafumi Ito
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  3. Mika Ito
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  5. J. Larry Jameson
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Correspondence to J. Larry Jameson.

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Achermann, J., Ito, M., Ito, M. et al. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22, 125–126 (1999). https://doi.org/10.1038/9629

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