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Article

PHOX2B: a diagnostic cornerstone in neurocristopathies and neuroblastomas.

Journal of clinical pathology - 17 May 2024

Windels Mei-Lan, Cordier Fleur, Van Dorpe Jo, Ferdinande Liesbeth, Creytens David

Abstract excerpt

Paired-like homeobox 2B (PHOX2B) is a gene essential in the development of the autonomic nervous system. PHOX2B mutations are associated with neurocristopathies-Hirschsprung disease (HSCR) and congenital central hypoventilation syndrome (CCHS)-and peripheral neuroblastic tumours. PHOXB2 plays an important role in the diagnostics of these conditions.Genotyping of a PHOX2B pathogenic variant is required to...

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Source

Identifiers

PMID: 38458747
DOI: 10.1136/jcp-2023-209047

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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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PHOX2B: a diagnostic cornerstone in neurocristopathies and neuroblastomas.PMID 38458747Read ↗

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