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HISTORY OF RESEARCH INTO MSS FROM AMSTERDAM UMC - UNIVERSITY OF OXFORD
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…
Rare, but not unknown anymore
Rare, but not unknown anymore
Our slogan: “Rare, but strong together!” is part of our mission. Marshall-Smith Syndrome…
Family Event 2025
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MSS Awareness Day
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On this day we honor:
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