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Article

Autopsy findings in EPG5-related Vici syndrome with antenatal onset.

American journal of medical genetics. Part A - 1 Sept 2017

Touraine Renaud, Laquerrière Annie, Petcu Carmen-Adina, Marguet Florent, Byrne Susan, Mein Rachael, Yau Shu, Mohammed Shehla, Guibaud Laurent, Gautel Mathias, Jungbluth Heinz

Abstract excerpt

Vici syndrome is one of the most extensive inherited human multisystem disorders and due to recessive mutations in EPG5 encoding a key autophagy regulator with a crucial role in autophagosome-lysosome fusion. The condition presents usually early in life, with features of severe global developmental delay, profound failure to thrive, (acquired) microcephaly, callosal agenesis, cataracts, cardiomyopathy,...

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Source

Identifiers

PMID: 28748650
DOI: 10.1002/ajmg.a.38342

Genes

EPG5

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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Autopsy findings in EPG5-related Vici syndrome with antenatal onset.PMID 28748650Read ↗

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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Semantic proximity Read ↗

Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate.Semantic proximity Read ↗

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.Semantic proximity Read ↗

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.Semantic proximity Read ↗

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.Semantic proximity Read ↗

Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature.Semantic proximity Read ↗

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