Heterozygous alterations of <i>GTF2I</i> at the Williams-Beuren syndrome’s locus cause a neurodevelopmental disorder
Pathogenic heterozygous <i>GTF2I</i> variants cause a neurodevelopmental disorder characterised by global developmental delay with facial dysmorphic features, partly resembling the phenotype observed in individuals affected with WBS.
Authors
- Elsa Leitão (ORCID: https://orcid.org/0000-0001-5051-9714)
- Danielle Veenma
- Sarah Schuhmann (ORCID: https://orcid.org/0000-0002-6775-3547)
- Frédéric Bilan (ORCID: https://orcid.org/0000-0001-8589-6018)
- Petra Zwijnenburg (ORCID: https://orcid.org/0000-0002-3061-1051)
- Christel Depienne (ORCID: https://orcid.org/0000-0002-7212-9554)
- Matthieu Egloff (ORCID: https://orcid.org/0000-0002-3146-1622)
- Georgia Vasileiou (ORCID: https://orcid.org/0000-0002-1993-1134)
- Thomas Besnard (ORCID: https://orcid.org/0000-0003-4804-5147)
- Laura Do Souto Ferreira (ORCID: https://orcid.org/0000-0003-1038-3458)
- Tahsin Stefan Barakat (ORCID: https://orcid.org/0000-0003-1231-1562)
- A. Mercier (ORCID: https://orcid.org/0000-0002-2030-9879)
- Christopher Schroeder (ORCID: https://orcid.org/0000-0002-9283-3012)
- Annick Toutain (ORCID: https://orcid.org/0000-0002-5999-5300)
- Ange‐Line Bruel (ORCID: https://orcid.org/0000-0002-0526-465X)
- Pascaline Létard (ORCID: https://orcid.org/0000-0003-2281-7786)
- Pierre Blanc (ORCID: https://orcid.org/0009-0003-8965-7171)
- Paul Gueguen (ORCID: https://orcid.org/0000-0003-2930-6073)
- Wallid Deb (ORCID: https://orcid.org/0000-0002-5103-8573)
- Arjan Bouman (ORCID: https://orcid.org/0000-0003-3531-5136)
- Stéphane Bezieau (ORCID: https://orcid.org/0000-0003-0095-1319)
- Jeanne Jury (ORCID: https://orcid.org/0009-0009-8080-1345)
- Benjamin Cogné (ORCID: https://orcid.org/0000-0002-5503-6292)
- Bertrand Isidor
Institutions
- Inserm (FR)
- Université de Bourgogne (FR)
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- Erasmus MC (NL)
- Centre Hospitalier Universitaire de Nantes (FR)
- Université de Poitiers (FR)
- Universitätsklinikum Erlangen (DE)
- Centre Hospitalier Universitaire de Tours (FR)
- Centre Hospitalier Universitaire de Poitiers (FR)
- CHU Dijon Bourgogne (FR)
- Université Bourgogne Franche-Comté (FR)
- Institut du Thorax (FR)
- Laboratoire de Génétique Cellulaire (FR)
- University of Duisburg-Essen (DE)
- University of Amsterdam (NL)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-09-17
- DOI
- https://doi.org/10.1136/jmg-2024-110471
- Citations
- 1
- Primary Topic
- Williams Syndrome Research
- Type
- article
- Field-Weighted Citation Impact
- 1.32