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Article

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

American journal of human genetics - 1 Apr 2004

Trochet Delphine, Bourdeaut Franck, Janoueix-Lerosey Isabelle, Deville Anne, de Pontual Loïc, Schleiermacher Gudrun, Coze Carole, Philip Nicole, Frébourg Thierry, Munnich Arnold, Lyonnet Stanislas, Delattre Olivier, Amiel Jeanne

Abstract excerpt

Neuroblastoma (NB) is a frequent pediatric tumor for which recurrent somatic rearrangements are known. Germline mutations of predisposing gene(s) are suspected on the basis of rare familial cases and the association of NB with other genetically determined congenital malformations of neural crest-...

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Identifiers

PMID: 15024693
DOI: 10.1086/383253
PMCID: PMC1181953

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15024693-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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