This thesis is focused on the description and delineation of clinical, molecular and epigenetic spectrum and features of Mendelian neurodevelopmental disorders caused by pathogenic variants in epigenetic machinery genes. Specifically, SRCAP, KDM6B, KMT2C, EHMT1 gene and 9q34.3 locus duplication are described.
Clinical epigenetics of Mendelian neurodevelopmental disorders
Monday 25 November 2024, 10:30 am- PhD candidate
- D. Rots MSc.
- Promotor(s)
- prof. dr. T. Kleefstra, prof. dr. H.G. Brunner, prof. dr. L.E.L.M. Vissers
- Organisation
- Faculty of Medical Sciences (Radboudumc), Donders Institute for Brain, Cognition and Behaviour
- Location
- Aula