A rare mutation in the EPG5 gene causes Vici syndrome

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dc.contributor.authorDemiral, Emine
dc.contributor.authorSen, Askin
dc.contributor.authorEsener, Zeynep
dc.contributor.authorCeylaner, Serdar
dc.contributor.authorTekedereli, Ibrahim
dc.date.accessioned2026-08-12T17:05:07Z
dc.date.issued2018
dc.departmentFırat Üniversitesi
dc.description.abstract[Abstract Not Available]
dc.identifier.doi10.1097/MCD.0000000000000233
dc.identifier.endpage147
dc.identifier.issn0962-8827
dc.identifier.issn1473-5717
dc.identifier.issue4
dc.identifier.orcid0000-0002-7216-662X
dc.identifier.orcid0000-0003-2786-1911
dc.identifier.pmid29944490
dc.identifier.scopus2-s2.0-85054032270
dc.identifier.scopusqualityQ3
dc.identifier.startpage145
dc.identifier.urihttps://doi.org/10.1097/MCD.0000000000000233
dc.identifier.urihttps://hdl.handle.net/11508/48994
dc.identifier.volume27
dc.identifier.wosWOS:000445749500009
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherLippincott Williams & Wilkins
dc.relation.ispartofClinical Dysmorphology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20260511
dc.subjectSensorineural Hearing-Loss
dc.subjectCorpus-Callosum
dc.subjectMuscle Biopsy
dc.subjectImmunodeficiency
dc.subjectHypopigmentation
dc.subjectAgenesis
dc.titleA rare mutation in the EPG5 gene causes Vici syndrome
dc.typeArticle

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