Article
WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2022
Ferrari Maria T M, Watanabe Andreia, da Silva Thatiane E, Gomes Nathalia L, Batista Rafael L, Nishi Mirian Y, de Paula Leila C P, Costa Eduardo C, Costa Elaine M F, Cukier Priscilla, Onuchic Luiz F, Mendonca Berenice B, Domenice Sorahia
Abstract excerpt
Wilms' tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Heterozygous germline pathogenic allelic variants of WT1 have been classically associated with Denys-Drash syndrome (DDS) and Frasier syndrome (FS). Usually, exonic pathogenic missense variants in the zinc finger region are the cause of DDS, whereas pathogenic variants affecting the canonic donor...
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