The direct involvement 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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%0 Journal Article
%1 Poulat.1993
%A Poulat, F.
%A Morin, D.
%A Koenig, A.
%A Brun, P.
%A Giltay, J.
%A Sultan, C.
%A Dumas, R.
%A Gessler, M.
%A Berta, P.
%D 1993
%J Hum Genet
%K *Genes;Wilms Base Chain DNA;Single-Stranded Data Dysgenesis/*genetics Failure;Chronic/*genetics Female Gonadal Humans Kidney Molecular Polymerase Reaction Sequence Syndrome Tumor Tumor/*genetics Wilms
%N 3
%P 285--286
%T Distinct molecular origins for Denys-Drash and Frasier syndromes
%V 91
%X The direct involvement 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.
@article{Poulat.1993,
abstract = {The direct involvement 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.},
added-at = {2013-01-29T13:47:26.000+0100},
author = {Poulat, F. and Morin, D. and Koenig, A. and Brun, P. and Giltay, J. and Sultan, C. and Dumas, R. and Gessler, M. and Berta, P.},
biburl = {https://www.bibsonomy.org/bibtex/26d10ada87f19e7e69670d2ff83ec7e82/ebch},
interhash = {1e1fbb687e397ff1f4d082347a1fddc5},
intrahash = {6d10ada87f19e7e69670d2ff83ec7e82},
journal = {Hum Genet},
keywords = {*Genes;Wilms Base Chain DNA;Single-Stranded Data Dysgenesis/*genetics Failure;Chronic/*genetics Female Gonadal Humans Kidney Molecular Polymerase Reaction Sequence Syndrome Tumor Tumor/*genetics Wilms},
number = 3,
pages = {285--286},
timestamp = {2013-01-29T13:47:30.000+0100},
title = {Distinct molecular origins for Denys-Drash and Frasier syndromes},
volume = 91,
year = 1993
}