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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
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  Data: Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.
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  Data: <searchLink fieldCode="AU" term="%22Ozcelik+F%22">Ozcelik F</searchLink>; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey.<br /><searchLink fieldCode="AU" term="%22Duman+N%22">Duman N</searchLink>; Department of Medical Genetics, Dragos Hospital Istanbul, Bezmialem Vakif University, Istanbul, 34854, Turkey.<br /><searchLink fieldCode="AU" term="%22Kiraz+A%22">Kiraz A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Oz+O%22">Oz O</searchLink>; Department of Medical Genetics, Faculty of Medicine, Harran University, Sanliurfa, 63300, Turkey.<br /><searchLink fieldCode="AU" term="%22Demir+M%22">Demir M</searchLink>; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey.<br /><searchLink fieldCode="AU" term="%22Dogan+A%22">Dogan A</searchLink>; Department of Pediatrics, Division of Pediatric Cardiology, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey.<br /><searchLink fieldCode="AU" term="%22Ozturk+S%22">Ozturk S</searchLink>; Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey.<br /><searchLink fieldCode="AU" term="%22Cicek+D%22">Cicek D</searchLink>; Department of Pediatrics, Division of Pediatric Endocrinology, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey.<br /><searchLink fieldCode="AU" term="%22Trabzon+GD%22">Trabzon GD</searchLink>; Department of Pediatrics, Division of Pediatric Endocrinology, Faculty of Medicine, Mustafa Kemal University, Hatay, Turkey.<br /><searchLink fieldCode="AU" term="%22Ozkul+Y%22">Ozkul Y</searchLink>; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey.; Betul-Ziya Eren Genome and Stem Cell Center (GENKOK), Kayseri, 38030, Turkey.<br /><searchLink fieldCode="AU" term="%22Per+H%22">Per H</searchLink>; Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey.<br /><searchLink fieldCode="AU" term="%22Dundar+M%22">Dundar M</searchLink>; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38030, Turkey. dundar@erciyes.edu.tr.
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  Data: <searchLink fieldCode="JN" term="%229709714%22">Neurogenetics</searchLink> [Neurogenetics] 2026 May 09; Vol. 27 (1). <i>Date of Electronic Publication: </i>2026 May 09.
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  Data: Journal Article; Multicenter Study; Review; Case Reports
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer-Verlag%22">Springer-Verlag </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9709714 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1364-6753 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213646745%22">13646745 </searchLink><i>NLM ISO Abbreviation: </i>Neurogenetics <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s10048-026-00906-2
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              Text: 2026 May 09
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