Rare · Published 2026-07-01 · DOI 10.1016/j.rare.2026.100131
Sophia Hammer-Hansen, Helene Cederroth, Giovanna Carpentieri, Lisenka E. L. M. Vissers, Mattia Carvetta, Zakaria Eddafir, Alexander Hoischen, Helena Gásdal Karstensen, Christian Gilissen, Wendy A.G. van Zelst-Stams, Elisabetta Flex, Mike Cederroth, Marco Tartaglia, Zeynep Tümer
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Hammer-Hansen, S., Cederroth, H., Carpentieri, G., et al. (2026). From unsolved to diagnosed: the Undiagnosed Hackathon and functional validation establish RRAS2-related Noonan syndrome. Rare. https://doi.org/10.1016/j.rare.2026.100131