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Herlin, L. K., Herlin, M. K., Blechingberg, J., Rønholt, K., Graversen, L., Schmidt, S. A. J., Jørgensen, M. W., Hellfritzsch, M. B., Hald, J. D., Beck-Nielsen, S. S., Gjørup, H., Andersen, B. N., Gregersen, P. A. & Sommerlund, M. (2024). Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants. European Journal of Medical Genetics, 69, Article 104937. https://doi.org/10.1016/j.ejmg.2024.104937

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