Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the <i>KMT2D</i> Gene
Although midface hypoplasia has been previously reported in individuals with KS, the severity noted in the index individual is an unusual feature of the syndrome.
Authors
- Athina Ververi (ORCID: https://orcid.org/0000-0002-8393-4444)
- Theodora Stathopoulou (ORCID: https://orcid.org/0009-0008-6770-0542)
- Kosmas Sarafidis (ORCID: https://orcid.org/0000-0002-6806-6343)
- Aggeliki Kontou
- Eleftheria Demertzidou (ORCID: https://orcid.org/0000-0001-8554-571X)
- Alexandros Sotiriadis (ORCID: https://orcid.org/0000-0003-0876-5596)
- Maria Alvanou
- Athanasios Gatsis
- Elisavet Christidou
Institutions
- Aristotle University of Thessaloniki (GR)
- Papageorgiou General Hospital (GR)
- Ippokrateio General Hospital of Thessaloniki (GR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-08-08
- DOI
- https://doi.org/10.1159/000540088
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00