Clinical variability in individuals with ATR-X syndrome in the Netherlands
We report on the largest cohort of clinically studied individuals with ATR-X syndrome, including the eldest individuals, reported to date. Clinical knowledge is essential to improve care and to evaluate future therapies for this group.
Authors
- Shimriet Zeidler (ORCID: https://orcid.org/0000-0001-8597-2359)
- Dederieke A. M. Festen (ORCID: https://orcid.org/0000-0002-7613-0720)
- Hennie T. Brüggenwirth (ORCID: https://orcid.org/0000-0003-4303-8896)
- M. J. Valstar (ORCID: https://orcid.org/0000-0002-2398-9945)
- M. T. Hartman (ORCID: https://orcid.org/0000-0002-6046-1402)
- Anne Noordhuis-Zijderveld
- Arooj Kharl
- Marloes van Gastel
Institutions
- Erasmus MC (NL)
- Rome Foundation (US)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- European Journal of Medical Genetics
- Published
- 2025-06-06
- DOI
- https://doi.org/10.1016/j.ejmg.2025.105026
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00