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Article

Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.

Clinics and research in hepatology and gastroenterology - 1 Dec 2016

Gonnaud Lucile, Alves Maria M, Cremillieux Clara, Billiemaz Kareen, Destombe Sylvie, Varlet François, Lopez Manuel, Trapes Laurène, Touraine Renaud, Hofstra Robert M W, Patural Hugues

Abstract excerpt

Congenital short-bowel syndrome (CSBS) is a rare neonatal pathology associated with poor prognosis and high mortality rate. We describe a newborn presenting CSBS intestinal malrotation and chronic intestinal pseudo-obstruction syndrome (CIPS), compound heterozygous for two previously unreported heterozygous mutations in Coxsackie and adenovirus receptor-like membrane protein (CLMP) gene, one in intron 1...

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Source

Identifiers

PMID: 27720179
DOI: 10.1016/j.clinre.2015.12.018

Genes

CLMP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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