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Article

A rare mutation in the EPG5 gene causes Vici syndrome.

Clinical dysmorphology - 1 Oct 2018

Demiral Emine, Sen Askin, Esener Zeynep, Ceylaner Serdar, Tekedereli Ibrahim

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Source

Identifiers

PMID: 29944490
DOI: 10.1097/MCD.0000000000000233

Genes

EPG5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A rare mutation in the EPG5 gene causes Vici syndrome.PMID 29944490Read ↗

[Variation analysis of EPG5 gene in a Vici syndrome family].Semantic proximity Read ↗

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.Semantic proximity Read ↗

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of <i>EPG5</i> and review of the literatureSemantic proximity Read ↗

Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.Semantic proximity Read ↗

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.Semantic proximity Read ↗

Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype.Semantic proximity Read ↗

An induced pluripotent stem cell line (CIMRi001-A) from a Vici syndrome donor with a homozygous recessive c.1007A>G (p.Q336R) mutation in the EPG5 gene.Semantic proximity Read ↗

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

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

Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A.Semantic proximity Read ↗

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

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