In utero nephropathy, Denys-Drash syndrome and Potter phenotype.

doi:10.1007/s004670050485

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Article

In utero nephropathy, Denys-Drash syndrome and Potter phenotype.

Pediatric nephrology (Berlin, Germany) - 1 Aug 1998

Maalouf E F, Ferguson J, van Heyningen V, Modi N

Abstract excerpt

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 sever...

Topics

Abnormalities, Multiple
Adult
DNA
Fatal Outcome
Genitalia, Male
Humans
Infant, Newborn
Kidney Failure, Chronic
Male
Mutation, Missense
Phenotype
Polymerase Chain Reaction
Syndrome

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