%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 }