ISSN:
1432-198X
Keywords:
Key words: Denys-Drash syndrome
;
Newborn
;
Nephropathy
;
WTI mutation
;
Potter
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract. We report an unusual case of Denys-Drash syndrome presenting in a newborn infant with end-stage renal failure of antenatal origin and Potter phenotype. DNA analysis showed a novel missense change in arginine 394 of zinc finger 3 of the WT1 gene. This mutation may lead to an earlier and more severe presentation of Denys-Drash syndrome. It may be of interest to look for this mutation in other Potter phenotype cases.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004670050485
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