Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
These findings confirm that GTF3C3 variants result in an autosomal recessive form of syndromic intellectual disability.
Authors
- Ying Zhu (ORCID: https://orcid.org/0000-0002-5416-0566)
- Sateesh Maddirevula (ORCID: https://orcid.org/0000-0003-2999-2229)
- Christiane Zweier (ORCID: https://orcid.org/0000-0001-8002-2020)
- Mireia Coll-Tané (ORCID: https://orcid.org/0000-0002-1796-2455)
- Rolph Pfundt (ORCID: https://orcid.org/0000-0002-0584-4398)
- Maha Saad Zaki (ORCID: https://orcid.org/0000-0001-7840-0002)
- Robyn D. Moir (ORCID: https://orcid.org/0000-0002-8190-7709)
- Lesley C. Adès
- Hoda Tomoum (ORCID: https://orcid.org/0000-0002-7781-7532)
- Lachlan De Hayr (ORCID: https://orcid.org/0000-0001-7852-2800)
- Anne Gregor (ORCID: https://orcid.org/0000-0001-9166-6593)
- Annette Schenck (ORCID: https://orcid.org/0000-0002-6918-3314)
- Alan Ma (ORCID: https://orcid.org/0000-0002-9293-4753)
- Tony Roscioli (ORCID: https://orcid.org/0000-0003-1502-5000)
- Victoria L. Harvey (ORCID: https://orcid.org/0000-0001-5956-6664)
- Sarah Josephi‐Taylor
- Katharina Steindl (ORCID: https://orcid.org/0000-0002-4425-3072)
- Kerith‐Rae Dias (ORCID: https://orcid.org/0000-0002-4707-8089)
- Anita M. Rauch (ORCID: https://orcid.org/0000-0003-2930-3163)
- Michael Field (ORCID: https://orcid.org/0000-0002-4003-0568)
- Futao Zhang (ORCID: https://orcid.org/0000-0002-6043-1756)
- Julia Laube
- Laura E.R. Blok (ORCID: https://orcid.org/0000-0002-5196-1448)
- Gabriele Siegel (ORCID: https://orcid.org/0000-0002-9501-7061)
- Anaïs Begemann (ORCID: https://orcid.org/0000-0001-6762-0819)
- Carey‐Anne Evans (ORCID: https://orcid.org/0000-0001-5575-430X)
- Jingyi Long (ORCID: https://orcid.org/0000-0001-8953-7346)
- Ian M. Willis (ORCID: https://orcid.org/0000-0001-6599-2395)
- André Reis (ORCID: https://orcid.org/0000-0002-6301-6363)
- Reza Maroofian (ORCID: https://orcid.org/0000-0001-6763-1542)
- Fowzan Sami Alkuraya (ORCID: https://orcid.org/0000-0003-4158-341X)
- Martina Mocera
- Joseph G. Gleeson
- Michael F. Buckley
- Markus Zweier
- David A. Koolen
- Mais Hashem
Institutions
- Ain Shams University (EG)
- Albert Einstein College of Medicine (US)
- Children’s Institute (US)
- Riyadh Armed Forces Hospital (SA)
- Radboud University Nijmegen (NL)
- University of the Sunshine Coast (AU)
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- University of Zurich (CH)
- King Faisal Specialist Hospital & Research Centre (SA)
- Radboud University Medical Center (NL)
- Universitätsklinikum Erlangen (DE)
- National Human Genome Research Institute (US)
- Hunter Genetics (AU)
- Sunshine Coast University Hospital (AU)
- Prince of Wales Hospital (AU)
- Sydney Children's Hospital (AU)
- Sydney Children’s Hospitals Network (AU)
- University College London (GB)
- Neuroscience Research Australia (AU)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2024-12-04
- DOI
- https://doi.org/10.1016/j.gim.2024.101253
- Citations
- 3
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.65
Funders
- National Science Foundation
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- ZonMw
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek
- Medical Research Council
- National Health and Medical Research Council