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Article

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

BMJ case reports - 27 May 2013

Dattolo Pietro, Allinovi Marco, Iatropoulos Paraskevas, Michelassi Stefano

Abstract excerpt

Wilms' tumour suppressor gene-1 (WT1) plays a critical role in kidney development and function. Several WT1 mutations can occur in exons 7, 8 and 9 and they have been associated with Denys-Drash syndrome. WT1 mutations of intron 9 have been reported too and associated with Frasier syndrome. However, overlapping and incomplete forms of both the syndromes have been described. We report a novel sequence variant...

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Identifiers

PMID: 23715837
DOI: 10.1136/bcr-2013-009543
PMCID: PMC3669930

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation.PMID 23715837Read ↗

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WT1-related disorders: more than Denys-Drash syndrome.Semantic proximity Read ↗

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