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. |
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| 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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| ISSN: | 1661-8769 |
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| DOI: | 10.1159/000540088 |
