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Article

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.

Journal of medical genetics - 1 Sept 2018

Broekaert Ilse Julia, Becker Kerstin, Gottschalk Ingo, Körber Friederike, Dötsch Jörg, Thiele Holger, Altmüller Janine, Nürnberg Peter, Hünseler Christoph, Cirak Sebahattin

Abstract excerpt

BACKGROUND: Protein-losing enteropathy (PLE) is characterised by gastrointestinal protein leakage due to loss of mucosal integrity or lymphatic abnormalities. PLE can manifest as congenital diarrhoea and should be differentiated from other congenital diarrhoeal disorders. Primary PLEs are genetically heterogeneous and the underlying genetic defects are currently emerging. OBJECTIVES: We report an infant with...

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Identifiers

PMID: 29661969
DOI: 10.1136/jmedgenet-2018-105262

Genes

PLVAP

Variants

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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