Article
Clinical and genetic findings of five patients with WT1-related disorders.
Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2008
Andrade Juliana Gabriel R de, Guaragna Mara Sanches, Soardi Fernanda Caroline, Guerra-Júnior Gil, Mello Maricilda Palandi de, Maciel-Guerra Andréa Trevas
Abstract excerpt
AIM: To present phenotypic variability of WT1-related disorders. METHODS: Description of clinical and genetic features of five 46,XY patients with WT1 anomalies. RESULTS: Patient 1: newborn with genital ambiguity; he developed Wilms tumor (WT) and chronic renal disease and died at the age of 10 months; the heterozygous 1186G>A mutation compatible with Denys-Drash syndrome was detected in this child. Patients 2...
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