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Article

Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation.

American journal of medical genetics. Part A - 1 Sept 2016

Rossi Valentina, Mosconi Manuela, Nozza Paolo, Murgia Daniele, Mattioli Girolamo, Ceccherini Isabella, Pini Prato Alessio

Abstract excerpt

Chronic intestinal pseudo obstruction (CIPO) is a rare clinical entity characterized by symptoms and signs of intestinal obstruction without either recognizable anatomical abnormalities or intestinal aganglionosis. A Chinese female infant presented to our institution with a clinical diagnosis of CIPO. Aganglionosis was ruled out by full thickness colonic and ileal biopsies and by rectal suction biopsies....

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Source

Identifiers

PMID: 27273837
DOI: 10.1002/ajmg.a.37787

Genes

RET

Variants

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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.

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