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Article

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.

European journal of human genetics : EJHG - 1 Jul 2013

Isidor Bertrand, Bourdeaut Franck, Lafon Delfine, Plessis Ghislaine, Lacaze Elodie, Kannengiesser Caroline, Rossignol Sylvie, Pichon Olivier, Briand Annaig, Martin-Coignard Dominique, Piccione Maria, David Albert, Delattre Olivier, Jeanpierre Cécile, Sévenet Nicolas, Le Caignec Cédric

Abstract excerpt

Nephroblastoma (Wilms' tumor; WT) is the most common renal tumor of childhood. To date, several genetic abnormalities predisposing to WT have been identified in rare overgrowth syndromes. Among them, abnormal methylation of the 11p15 region, GPC3 and DIS3L2 mutations, which are responsible for Beckwith-Wiedemann, Simpson-Golabi-Behmel and Perlman syndromes, respectively. However, the underlying cause of WT...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 9

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23169491
DOI: 10.1038/ejhg.2012.252
PMCID: PMC3722950

Genes

PTCH1
GPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.PMID 23169491Read ↗

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