A rare mutation in the EPG5 gene causes Vici syndrome

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dc.authoridKayhan, Zeynep/0000-0003-0579-1115
dc.authoridSen, Askin/0000-0002-3534-5477
dc.authoridDemiral, Emine/0000-0002-7216-662X
dc.authoridCeylaner, Serdar/0000-0003-2786-1911
dc.authorwosidEsener, Zeynep/ISB-9416-2023
dc.authorwosidKayhan, Zeynep/AAJ-4623-2021
dc.authorwosidSen, Askin/N-8560-2015
dc.contributor.authorDemiral, Emine
dc.contributor.authorSen, Askin
dc.contributor.authorEsener, Zeynep
dc.contributor.authorCeylaner, Serdar
dc.contributor.authorTekedereli, Ibrahim
dc.date.accessioned2024-08-04T20:45:26Z
dc.date.available2024-08-04T20:45:26Z
dc.date.issued2018
dc.departmentİnönü Üniversitesien_US
dc.description.abstract[Abstract Not Available]en_US
dc.identifier.doi10.1097/MCD.0000000000000233
dc.identifier.endpage147en_US
dc.identifier.issn0962-8827
dc.identifier.issn1473-5717
dc.identifier.issue4en_US
dc.identifier.pmid29944490en_US
dc.identifier.scopus2-s2.0-85054032270en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage145en_US
dc.identifier.urihttps://doi.org/10.1097/MCD.0000000000000233
dc.identifier.urihttps://hdl.handle.net/11616/98479
dc.identifier.volume27en_US
dc.identifier.wosWOS:000445749500009en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherLippincott Williams & Wilkinsen_US
dc.relation.ispartofClinical Dysmorphologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectSensorineural Hearing-Lossen_US
dc.subjectCorpus-Callosumen_US
dc.subjectMuscle Biopsyen_US
dc.subjectImmunodeficiencyen_US
dc.subjectHypopigmentationen_US
dc.subjectAgenesisen_US
dc.titleA rare mutation in the EPG5 gene causes Vici syndromeen_US
dc.typeArticleen_US

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