Disease: Absent corpus callosum cataract immunodeficiency
- <em>EPG5</em>-Related Disorder
- A rare mutation in the EPG5 gene causes Vici syndrome
- A Saudi Infant with Vici Syndrome: Case Report and Literature Review
- Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome
- Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers
- 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
- Autophagy in Vici syndrome, mucolipidosis type IV and intractable epilepsy
- Autopsy findings in EPG5-related Vici syndrome with antenatal onset
- Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus
- Clinical utility gene card for: Vici Syndrome
- Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism
- Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement
- Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases
- EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome
- EPG5 Compound Heterozygous Unreported Pathogenic Variants in a Mexican Patient with Vici Syndrome
- EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome
- EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
- First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature
- Immunodeficiency in Vici syndrome: a heterogeneous phenotype
- Insights on autophagosome-lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5
- Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype
- Mice deficient in the Vici syndrome gene Epg5 exhibit features of retinitis pigmentosa
- Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature
- Novel <em>EPG5</em> Mutation Associated with Vici Syndrome Gene
- 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
- Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy
- Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate
- Ophthalmologic features of Vici syndrome
- Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome
- Perinatal clinical course of Vici syndrome associated with novel <em>EPG5</em> variants: unique cardiac changes and difficulty with foetal diagnosis
- Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant
- Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation
- Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
- Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome
- Severe Central Sleep Apnea in Vici Syndrome
- The <em>epg5</em> knockout zebrafish line: a model to study Vici syndrome
- The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in EPG5
- The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines the Fusion Specificity of Autophagosomes with Late Endosomes/Lysosomes
- The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity
- Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing
- Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature
- Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay
- Variation analysis of EPG5 gene in a Vici syndrome family
- Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy
- Vici syndrome associated with sensorineural hearing loss and laryngomalacia
- Vici syndrome in Israel: Clinical and molecular insights
- Vici syndrome in siblings born to consanguineous parents
- Vici Syndrome with a Novel Mutation in EPG5
- Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review
- Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy
- Vici syndrome: a review