Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases
Wang, C. M., Whiting, A. H., Rath, A., Anido, R., Ardigò, D., Baynam, G., Dawkins, H., Hamosh, A., Cam, Y. L., Malherbe, H., Molster, C. M., Monaco, L., Padilla, C. D., Pariser, A. R., Robinson, P. N., Rodwell, C., Schaefer, F., Weber, S., & Macchia, F. (2024). Operational Description of Rare Diseases: A Reference to Improve the Recognition and Visibility of Rare Diseases. Orphanet Journal of Rare Diseases, 19(1).
https://doi.org/10.1186/s13023-024-03322-7