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Article

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.

American journal of human genetics - 1 Mar 2005

Trochet Delphine, O'Brien Louise M, Gozal David, Trang Ha, Nordenskjöld Agneta, Laudier Béatrice, Svensson Pär-Johan, Uhrig Sabine, Cole Trevor, Niemann Stephan, Munnich Arnold, Gaultier Claude, Lyonnet Stanislas, Amiel Jeanne

Abstract excerpt

The Phox2b gene is necessary for autonomic nervous-system development. Phox2b-/- mice die in utero with absent autonomic nervous system circuits, since autonomic nervous system neurons either fail to form or degenerate. We first identified the Phox2b human ortholog, PHOX2B, as the gene underlying congenital central hypoventilation syndrome (CCHS, or Ondine curse), with an autosomal dominant mode of inheritance...

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Identifiers

PMID: 15657873
DOI: 10.1086/428366
PMCID: PMC1196394

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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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