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Article

Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype.

Journal of medical genetics - 1 Nov 2018

Kurolap Alina, Eshach-Adiv Orly, Gonzaga-Jauregui Claudia, Dolnikov Katya, Mory Adi, Paperna Tamar, Hershkovitz Tova, Overton John D, Kaplan Marielle, Glaser Fabian, Zohar Yaniv, Shuldiner Alan R, Berger Gidon, Baris Hagit N

Abstract excerpt

BACKGROUND: Intestinal integrity is essential for proper nutrient absorption and tissue homeostasis, with damage leading to enteric protein loss, that is, protein-losing enteropathy (PLE). Recently, homozygous nonsense variants in the plasmalemma vesicle-associated protein gene (PLVAP) were reported in two patients with severe congenital PLE. PLVAP is the building block of endothelial cell (EC) fenestral...

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Source

Identifiers

PMID: 29875123
DOI: 10.1136/jmedgenet-2018-105299

Genes

PLVAP

Variants

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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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