Article
Horseshoe kidney malformation in Turner syndrome is not associated with HNF-1beta gene mutations.
Pediatric nephrology (Berlin, Germany) - 1 Jan 2008
D'Amato Elena, d'Annunzio Giuseppe, Calcaterra Valeria, Morsellino Vera, Larizza Daniela, Lorini Renata
Abstract excerpt
Mutations in hepatocyte nuclear factor-1beta (HNF-1beta) gene cause a subtype of maturity-onset diabetes of the young (MODY5), whose clinical features are pancreatic beta-cell dysfunction, renal malformations, and in some females, internal genital malformations. Recently, we reported the first case of MODY5 and horseshoe kidney. The patient was the only male in a three-generation family with five affected females...
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