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Article

Proximal Hypospadias and a Novel WT1 Variant: When Should Genetic Testing Be Considered?

Pediatrics - 1 Apr 2018

Dabrowski Elizabeth, Armstrong Amy E, Leeth Elizabeth, Johnson Emilie, Cheng Earl, Gosiengfiao Yasmin, Finlayson Courtney

Abstract excerpt

We present a case of an infant with proximal hypospadias, penoscrotal transposition, and bilaterally descended testes found to have a clinically significant WT1 gene alteration on a customized disorder of sex development genetic panel in which 62 genes associated with 46, XY disorders of sex development were evaluated. This diagnosis led to early screening for and diagnosis and treatment of Wilms tumor. Patients...

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PMID: 29610178
DOI: 10.1542/peds.2017-0230

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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.

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