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Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome.

Current opinion in pediatrics - 1 Feb 2008

Chiang Pei-Wen, Aliaga Sofia, Travers Sharon, Spector Elaine, Tsai Anne Chun-Hui

Abstract excerpt

Denys-Drash syndrome is a rare genetic disorder featuring the triad of congenital nephropathy, Wilms tumor, and intersex disorders (XY under-virilization or XY female). Denys-Drash syndrome is associated with constitutional mutations in the Wilms tumor suppressor gene WT1. Unlike WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome, with its complete deletion of one copy of WT1,...

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PMID: 18197048
DOI: 10.1097/MOP.0b013e3282f357eb

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome.PMID 18197048Read ↗

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Novel WT1 and ACTN4 co-mutations in a patient with Denys-Drash syndrome and an atypical, potentially attenuated presentation of nephropathy: a case report.Semantic proximity Read ↗

A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X.Semantic proximity Read ↗

Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome.Semantic proximity Read ↗

Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation.Semantic proximity Read ↗

A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome.Semantic proximity Read ↗

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Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?Semantic proximity Read ↗

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