A rare mutation in the EPG5 gene causes Vici syndrome

Demiral, EmineSen, AskinEsener, ZeynepCeylaner, SerdarTekedereli, Ibrahim2024-08-042024-08-0420180962-88271473-5717https://doi.org/10.1097/MCD.0000000000000233https://hdl.handle.net/11616/98479[Abstract Not Available]eninfo:eu-repo/semantics/closedAccessSensorineural Hearing-LossCorpus-CallosumMuscle BiopsyImmunodeficiencyHypopigmentationAgenesisA rare mutation in the EPG5 gene causes Vici syndromeArticle2741451472994449010.1097/MCD.00000000000002332-s2.0-85054032270Q3WOS:000445749500009Q4