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Article

Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.

Acta neuropathologica - 1 Aug 2015

Nobuta Hiroko, Cilio Maria Roberta, Danhaive Olivier, Tsai Hui-Hsin, Tupal Srinivasan, Chang Sandra M, Murnen Alice, Kreitzer Faith, Bravo Verenice, Czeisler Catherine, Gokozan Hamza Numan, Gygli Patrick, Bush Sean, Weese-Mayer Debra E, Conklin Bruce, Yee Siu-Pok, Huang Eric J, Gray Paul A, Rowitch David, Otero José Javier

Abstract excerpt

Human congenital central hypoventilation syndrome (CCHS), resulting from mutations in transcription factor PHOX2B, manifests with impaired responses to hypoxemia and hypercapnia especially during sleep. To identify brainstem structures developmentally affected in CCHS, we analyzed two postmortem...

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Identifiers

PMID: 25975378
DOI: 10.1007/s00401-015-1441-0
PMCID: PMC4503865

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25975378-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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