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Article

Phenotypic Refinement of ESAM-Related Tight-Junctionopathy: Novel Genetic and Ocular Findings and Literature Review.

Molecular genetics & genomic medicine - 1 Jun 2026

Lecca Mauro, Bosetti Chiara, Ruoli Federico, Fontanel Liviana, Mazza Marco, Valente Enza Maria, Battini Roberta, Errichiello Edoardo

Abstract excerpt

BACKGROUND: Endothelial cell-selective adhesion molecule (ESAM) is a tight junction protein essential for blood-brain barrier integrity and angiogenesis. Bi-allelic loss-of-function variants in ESAM cause NEDIHSS ("Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity"), a neurodevelopmental/neurovascular disorder with antenatal/neonatal onset, characterized by global developmental...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42265826
DOI: 10.1002/mgg3.70245
PMCID: PMC13249801

Genes

ESAM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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