Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers
about
Absence makes the search grow longerVici syndrome: a reviewSister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infectionsRecessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.Vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disabilityEPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Agenesis of corpus callosum and dementia of the Alzheimer's type: a review and case report.A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism.Role of Epg5 in selective neurodegeneration and Vici syndrome.Newborn screening for primary immunodeficiencies: beyond SCID and XLA.Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases.Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.Immunodeficiency as a component of recognizable syndromes.Clinical utility gene card for: Vici Syndrome.Mice deficient in the Vici syndrome gene Epg5 exhibit features of retinitis pigmentosa.EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.Human herpesvirus-6 (HHV-6)-associated necrotizing encephalitis in Griscelli's syndrome.Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.Autopsy findings in EPG5-related Vici syndrome with antenatal onset.Vici syndrome in siblings born to consanguineous parents.Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome.A Saudi Infant with Vici Syndrome: Case Report and Literature Review.Immunodeficiency in Vici syndrome: A heterogeneous phenotype
P2860
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P2860
Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers
description
1988 nî lūn-bûn
@nan
1988 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Agenesis of the corpus callosu ...... popigmentation in two brothers
@ast
Agenesis of the corpus callosu ...... popigmentation in two brothers
@en
Agenesis of the corpus callosu ...... popigmentation in two brothers
@nl
type
label
Agenesis of the corpus callosu ...... popigmentation in two brothers
@ast
Agenesis of the corpus callosu ...... popigmentation in two brothers
@en
Agenesis of the corpus callosu ...... popigmentation in two brothers
@nl
prefLabel
Agenesis of the corpus callosu ...... popigmentation in two brothers
@ast
Agenesis of the corpus callosu ...... popigmentation in two brothers
@en
Agenesis of the corpus callosu ...... popigmentation in two brothers
@nl
P2093
P356
P1476
Agenesis of the corpus callosu ...... popigmentation in two brothers
@en
P2093
C Dionisi Vici
F Vigevano
M Fiorilli
M Gambarara
R Boldrini
S G Parisi
P2860
P356
10.1002/AJMG.1320290102
P407
P577
1988-01-01T00:00:00Z