TY  - JOUR
A1  - Poulat, F.
A1  - Morin, D.
A1  - Konig, A.
A1  - Brun, P.
A1  - Giltay, J.
A1  - Sultan, C.
A1  - Dumas, R.
A1  - Gessler, Manfred
A1  - Berta, P.
T1  - Distinct molecular origins for Denys-Drash and Frasier syndromes
N2  - 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.
KW  - Biochemie
Y1  - 1993
UR  - https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/5002
UR  - https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-59172
ER  -