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Article

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.

Human mutation - 1 Feb 2009

Trochet Delphine, Mathieu Yves, Pontual Loïc de, Savarirayan Ravi, Munnich Arnold, Brunet Jean-François, Lyonnet Stanislas, Goridis Christo, Amiel Jeanne

Abstract excerpt

A wide range of autonomic dysfunctions, i.e. Central Hypoventilation Syndromes, Hirschsprung disease and Tumours of the Sympathetic Nervous System have been ascribed to heterozygous PHOX2B mutations in man. The PHOX2B mutations reported include polyalanine expansions in a 20 alanines tract, missense, frameshift mutations and nonsense mutation. Some genotype/phenotype correlations have been drawn, but the...

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PMID: 19058226
DOI: 10.1002/humu.20923

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.PMID 19058226Read ↗

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