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Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the KMT2D Gene.

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Title: Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the KMT2D Gene.
Authors: Gatsis A; School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Alvanou M; Centre of Genetics for Rare Diseases, Papageorgiou General Hospital, Thessaloniki, Greece., Christidou E; School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Demertzidou E; 2nd Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, Ippokrateion General Hospital, Thessaloniki, Greece., Kontou A; 1st Department of Neonatology and Neonatal Intensive Care, School of Medicine, Aristotle University of Thessaloniki, Ippokrateion General Hospital, Thessaloniki, Greece., Stathopoulou T; 1st Department of Neonatology and Neonatal Intensive Care, School of Medicine, Aristotle University of Thessaloniki, Ippokrateion General Hospital, Thessaloniki, Greece., Sarafidis K; 1st Department of Neonatology and Neonatal Intensive Care, School of Medicine, Aristotle University of Thessaloniki, Ippokrateion General Hospital, Thessaloniki, Greece., Sotiriadis A; 2nd Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, Ippokrateion General Hospital, Thessaloniki, Greece., Ververi A; Centre of Genetics for Rare Diseases, Papageorgiou General Hospital, Thessaloniki, Greece.
Source: Molecular syndromology [Mol Syndromol] 2025 Feb; Vol. 16 (1), pp. 38-42. Date of Electronic Publication: 2024 Aug 08.
Publication Type: Journal Article
Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the KMT2D Gene.
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  Data: <searchLink fieldCode="AU" term="%22Gatsis+A%22">Gatsis A</searchLink>; School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.<br /><searchLink fieldCode="AU" term="%22Alvanou+M%22">Alvanou M</searchLink>; Centre of Genetics for Rare Diseases, Papageorgiou General Hospital, Thessaloniki, Greece.<br /><searchLink fieldCode="AU" term="%22Christidou+E%22">Christidou E</searchLink>; School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.<br /><searchLink fieldCode="AU" term="%22Demertzidou+E%22">Demertzidou E</searchLink>; 2nd Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, Ippokrateion General Hospital, Thessaloniki, Greece.<br /><searchLink fieldCode="AU" term="%22Kontou+A%22">Kontou A</searchLink>; 1st Department of Neonatology and Neonatal Intensive Care, School of Medicine, Aristotle University of Thessaloniki, Ippokrateion General Hospital, Thessaloniki, Greece.<br /><searchLink fieldCode="AU" term="%22Stathopoulou+T%22">Stathopoulou T</searchLink>; 1st Department of Neonatology and Neonatal Intensive Care, School of Medicine, Aristotle University of Thessaloniki, Ippokrateion General Hospital, Thessaloniki, Greece.<br /><searchLink fieldCode="AU" term="%22Sarafidis+K%22">Sarafidis K</searchLink>; 1st Department of Neonatology and Neonatal Intensive Care, School of Medicine, Aristotle University of Thessaloniki, Ippokrateion General Hospital, Thessaloniki, Greece.<br /><searchLink fieldCode="AU" term="%22Sotiriadis+A%22">Sotiriadis A</searchLink>; 2nd Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, Ippokrateion General Hospital, Thessaloniki, Greece.<br /><searchLink fieldCode="AU" term="%22Ververi+A%22">Ververi A</searchLink>; Centre of Genetics for Rare Diseases, Papageorgiou General Hospital, Thessaloniki, Greece.
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  Data: <searchLink fieldCode="JN" term="%22101525192%22">Molecular syndromology</searchLink> [Mol Syndromol] 2025 Feb; Vol. 16 (1), pp. 38-42. <i>Date of Electronic Publication: </i>2024 Aug 08.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22S%2E+Karger%22">S. Karger </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101525192 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>1661-8769 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216618769%22">16618769 </searchLink><i>NLM ISO Abbreviation: </i>Mol Syndromol <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1159/000540088
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        Text: English
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      – TitleFull: Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the KMT2D Gene.
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              Text: 2025 Feb
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              Y: 2025
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