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Article

Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype.

Pediatric research - 1 Jun 2024

Slattery Susan M, Wilkinson James, Mittal Angeli, Zheng Charlie, Easton Nicholas, Singh Saumya, Baker Joshua J, Rand Casey M, Khaytin Ilya, Stewart Tracey M, Demeter David, Weese-Mayer Debra E

Abstract excerpt

BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) has devastating consequences if not diagnosed promptly. Despite identification of the disease-defining gene PHOX2B and a facial phenotype, CCHS remains underdiagnosed. This study aimed to incorporate automated techniques on facial photos to screen for CCHS in a diverse pediatric cohort to improve early case identification and assess a facial...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38238566
DOI: 10.1038/s41390-023-02990-8

Genes

PHOX2B
IMPACT

Provenance

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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