Distinct molecular origins for Denys-Drash and Frasier syndromes (original) (raw)

Abstract

The direct involvment of the Wilm's tumor suppressor gene (WT1) in Denys-Drash syndrome through mutations within exons 8 or 9 has recently been established. The absence of such alterations in three patients with Frasier syndrome provides a molecular basis for distinguishing these two syndromes that are associated with streak gonads, pseudohermaphroditism and renal failure.

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Authors and Affiliations

1. Centre de Recherches de Biochimie Macromoléculaire, CNRS UPR 9008, INSERM U249, Route de Mende, F-34033, Montpellier Cedex, France
   F. Poulat & P. Berta
2. Service de Pédiatrie I, Hôpital Saint-Charles, F-34059, Montpellier Cedex, France
   D. Morin, C. Sultan & R. Dumas
3. Clinical Genetic Center Utrecht, P. O. Box 18009, NL-3501, CA Utrecht, The Netherlands
   P. Brun
4. Service de Néphrologie, Hôpital Robert Debré, 48, Boulevard Serrurier, F-75019, Paris Cedex, France
   J. Giltay
5. Institut für Humangenetik, Bahnhofstrasse 7A, W-3550, Marburg, Germany
   A. König & M. Gessler

Authors

1. F. Poulat
2. D. Morin
3. A. König
4. P. Brun
5. J. Giltay
6. C. Sultan
7. R. Dumas
8. M. Gessler
9. P. Berta

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Poulat, F., Morin, D., König, A. et al. Distinct molecular origins for Denys-Drash and Frasier syndromes.Hum Genet 91, 285–286 (1993). https://doi.org/10.1007/BF00218274

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• Received: 23 June 1992
• Revised: 13 November 1992
• Issue Date: April 1993
• DOI: https://doi.org/10.1007/BF00218274

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