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Nuoffer, Jean-Marc; Pfammatter, Jean-Pierre; Spahr, A.; Toplak, H.; Wanders, R. J. A.; Schutgens, R. B. H.; Wiesmann, U. N. (1994). Chondrodysplasia punctata with a mild clinical course. Journal of inherited metabolic disease, 17(1), pp. 60-66. Springer 10.1007/bf00735395