Research into MSS is conducted in Oxford from a collaboration between Amsterdam UMC and University of Oxford. Having discovered in 2010 that an abnormality in the NFIX gene is the causative agent of Marshall-Smith Syndrome, this collaboration started in 2015.
We created a poster showing the timeline of the study and summarising in simple terms the results so far.
1 Kooblall, K.G., et al. (2023). A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall‐Smith Syndrome. JBMR Plus, 7(6): e10739. Link to article
2 Kooblall, K.G., et al. (2024). Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes. JBMR Plus, 8(7): ziae060. Link to article
