Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation.

Journal of pediatric surgery - 1 Feb 2007

Ou-Yang Mei-Chen, Yang San-Nan, Hsu Yung-Ming, Ou-Yang Mei-Hui, Haung Hsin-Chun, Lee Shin-Yi, Hsieh Wu-Shiun, Su Yi-Ning, Liu Chieh-An

Abstract excerpt

Hirschsprung's disease (HSCR) is characterized by the absence of intramural ganglion cells in the distal gut, resulting in bowel obstruction shortly after birth. Congenital central hypoventilation syndrome (CCHS) results in hypoventilation, most pronounced during sleep, with relative insensitivity to hypercarbia and reduced insensitivity to hypoxia. Congenital central hypoventilation syndrome with HSCR is a rare...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fatal Outcome
Share to Hirschsprung Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Hypoventilation

Share to Multiple Organ Failure

Share to Rare Diseases

Share to Risk Assessment

Share to Syndrome

Source

Identifiers

PMID: 17270534
DOI: 10.1016/j.jpedsurg.2006.10.022

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation.PMID 17270534Read ↗

Congenital central hypoventilation syndrome and the PHOX2B gene mutation.Semantic proximity Read ↗

Contributions of PHOX2B in the Pathogenesis of Hirschsprung DiseaseSemantic proximity Read ↗

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.Semantic proximity Read ↗

PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.Semantic proximity Read ↗

Hirschsprung disease and other gastrointestinal motility disorders in patients with CCHS.Semantic proximity Read ↗

Pediatric disorders with autonomic dysfunction: what role for PHOX2B?Semantic proximity Read ↗

Haddad syndrome with PHOX2B gene mutation in a Korean infant.Semantic proximity Read ↗

PHOX2B: a diagnostic cornerstone in neurocristopathies and neuroblastomas.Semantic proximity Read ↗

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions.Semantic proximity Read ↗

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.Semantic proximity Read ↗

A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.Semantic proximity Read ↗

Hirschsprung's disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.