Article
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.
Pediatric nephrology (Berlin, Germany) - 1 Mar 2012
Mussa Alessandro, Peruzzi Licia, Chiesa Nicoletta, De Crescenzo Agostina, Russo Silvia, Melis Daniela, Tarani Luigi, Baldassarre Giuseppina, Larizza Lidia, Riccio Andrea, Silengo Margherita, Ferrero Giovanni Battista
Abstract excerpt
Beckwith-Wiedemann syndrome (BWS), an overgrowth disorder with several congenital abnormalities, encompasses nephrourological anomalies. The objective of the report is to analyze the latter and related genotype-phenotype correlations. The study was a retrospective review of nephrourological investigations and genotype in 67 BWS patients. Imaging and laboratory studies have been correlated with the molecular...
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