Distinct molecular origins for Denys-Drash and Frasier syndromes

Please always quote using this URN: urn:nbn:de:bvb:20-opus-59172
  • The direct involvment of the Wilm's tumor suppressor gene (WTl) 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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Author: F. Poulat, D. Morin, A. Konig, P. Brun, J. Giltay, C. Sultan, R. Dumas, Manfred Gessler, P. Berta
Document Type:Journal article
Faculties:Fakultät für Biologie / Theodor-Boveri-Institut für Biowissenschaften
Year of Completion:1993
Source:In: Human Genetics (1993) 91, S. 285 - 286.
Dewey Decimal Classification:5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie
GND Keyword:Biochemie
Release Date:2011/08/23
Licence (German):License LogoDeutsches Urheberrecht