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Article

Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counseling.

American journal of medical genetics. Part A - 15 Sept 2008

Regev Miriam, Kirk Richard, Mashevich Maya, Bistritzer Zvi, Reish Orit

Abstract excerpt

We present a vertical transmission of a nonsense mutation in exon 1 of the Wilms' tumor WT1 gene, from a mother who had Wilms' tumor in infancy and decreased fertility at adulthood, to her son who displayed genitourinary (GU) anomalies, gonadal dysgenesis with gonadoblastoma foci, and intra-abdominal Mullerian derivatives. No Wilms' tumor was detected up to the age of 6 years in the son. Sequence analysis of...

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Identifiers

PMID: 18688870
DOI: 10.1002/ajmg.a.32330

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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.

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