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Article

Hirschsprung disease and other gastrointestinal motility disorders in patients with CCHS.

European journal of pediatrics - 1 Feb 2021

Balakrishnan Keshawadhana, Perez Iris A, Keens Thomas G, Sicolo Anita, Punati Jaya, Danialifar Tanaz

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is an autonomic nervous system dysfunction due to PHOX2B gene mutation. Little is known about gastrointestinal motility disorders in CCHS patients. This study aims to describe the spectrum of gastrointestinal motility disorders in CCHS and provide PHOX2B genotype-phenotype correlation with Hirschsprung Disease (HD). We reviewed the records of 72 CCHS patients...

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Identifiers

PMID: 33113016
DOI: 10.1007/s00431-020-03848-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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