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<i>PHOX2B</i> polyalanine repeat mutation has a profound impact on the transcriptome of neuronal progenitor cells in Haddad syndrome

2025-10-16

Abstract excerpt

Mutation in paired-like homeobox 2B ( PHOX2B ) is used as the diagnostic marker of Haddad syndrome (HS). The mutant gene/protein afflict neural crest cells during embryonic development which leads to congenital central hypoventilation syndrome (CCHS) and Hirschsprung’s disease (HSCR). Previous studies on HS and CCHS have mainly focused on the conformational dynamics of the mutant protein and have remained contro...

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Literature Corpus work
c8a84aaf-2de3-5818-aadf-8ad931ed1de1
DOI
10.1101/2025.10.15.682708
Open publication

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<i>PHOX2B</i> polyalanine repeat mutation has a profound impact on the transcriptome of neuronal progenitor cells in Haddad syndromeDOI 10.1101/2025.10.15.682708
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