Article
The HNF1B score is a simple tool to select patients for HNF1B gene analysis.
Kidney international - 1 Nov 2014
Faguer Stanislas, Chassaing Nicolas, Bandin Flavio, Prouheze Cathie, Garnier Arnaud, Casemayou Audrey, Huart Antoine, Schanstra Joost P, Calvas Patrick, Decramer Stéphane, Chauveau Dominique
Abstract excerpt
HNF1B-related disease is an emerging condition characterized by an autosomal-dominant inheritance, a 50% rate of de novo mutations, and a highly variable phenotype (renal involvement, maturity-onset diabetes of the young type 5, pancreatic hypoplasia, and urogenital tract and liver test abnormalities). Given the current lack of pathognomonic characteristics and the wide overlap with other conditions, a genetic...
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