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
- Centre de Recherches de Biochimie Macromoléculaire, CNRS UPR 9008, INSERM U249, Route de Mende, F-34033, Montpellier Cedex, France
F. Poulat & P. Berta - Service de Pédiatrie I, Hôpital Saint-Charles, F-34059, Montpellier Cedex, France
D. Morin, C. Sultan & R. Dumas - Clinical Genetic Center Utrecht, P. O. Box 18009, NL-3501, CA Utrecht, The Netherlands
P. Brun - Service de Néphrologie, Hôpital Robert Debré, 48, Boulevard Serrurier, F-75019, Paris Cedex, France
J. Giltay - Institut für Humangenetik, Bahnhofstrasse 7A, W-3550, Marburg, Germany
A. König & M. Gessler
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- F. Poulat
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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
- Received: 23 June 1992
- Revised: 13 November 1992
- Issue Date: April 1993
- DOI: https://doi.org/10.1007/BF00218274