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    Kuijpers, T. W., Ridanpää, M., Peters, M., de Boer, I., Vossen, J. M. J. J., Pals, S. T., Kaitila, I., & Hennekam, R. C. M. (2003). Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene. Journal of Medical Genetics, 40(10), 761-766. https://doi.org/10.1136/jmg.40.10.761
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