Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.

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Title: Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.
Authors: Ozcelik F; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey., Duman N; Department of Medical Genetics, Dragos Hospital Istanbul, Bezmialem Vakif University, Istanbul, 34854, Turkey., Kiraz A; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey.; Department of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, 38080, Turkey., Oz O; Department of Medical Genetics, Faculty of Medicine, Harran University, Sanliurfa, 63300, Turkey., Demir M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey., Dogan A; Department of Pediatrics, Division of Pediatric Cardiology, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey., Ozturk S; Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey., Cicek D; Department of Pediatrics, Division of Pediatric Endocrinology, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey., Trabzon GD; Department of Pediatrics, Division of Pediatric Endocrinology, Faculty of Medicine, Mustafa Kemal University, Hatay, Turkey., Ozkul Y; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey.; Betul-Ziya Eren Genome and Stem Cell Center (GENKOK), Kayseri, 38030, Turkey., Per H; Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey., Dundar M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey. dundar@erciyes.edu.tr.
Source: Neurogenetics [Neurogenetics] 2026 May 09; Vol. 27 (1). Date of Electronic Publication: 2026 May 09.
Publication Type: Journal Article; Multicenter Study; Review; Case Reports
Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1364-6753
DOI:10.1007/s10048-026-00906-2