WT1-Related Nephropathy in a Phenotypically Female Child: A Case of Clinical and Genetic Discordance

WT1-Related Nephropathy in a Phenotypically Female Child: A Case of Clinical and Genetic Discordance

WT1-related disorders comprise a spectrum of conditions resulting from mutations or deletions of the WT1 gene. Alteration in this gene have been associated with many syndromes, including WAGR syndrome, Denys–Drash syndrome (DDS), Frasier syndrome (FS) and Meacham syndrome. We present the case of an...

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Bibliographic Details
Main Authors: Mariana Costin, Eliza Elena Cinteză, Anca Croitoru, Ionela-Loredana Popa, Alexandra Stanciu, Irina Popescu, Nicoleta Petre, Bettyna Olivotto, Andrei Căpitănescu, Sofia Resceanu, Elena Cotfasa, Cristina Bologa
Format: Article
Language:English
Published: MDPI AG 2025-05-01
Series:Children
Subjects:
Frasier syndrome (FS)
Denys–Drash syndrome (DDS)
end-stage kidney disease (ESKD)
thrombotic microangiopathy (TMA)
focal segmental glomerulosclerosis (FSGS)
Wilms Tumor 1 (WT1)
Online Access:https://www.mdpi.com/2227-9067/12/5/595
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