Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations

J. M. Drijvers, D. J. Lefeber, S. A. de Munnik, R. Pfundt, N. van de Leeuw, C. Marcelis, C. Thiel, C. Koerner, R. A. Wevers, E. Morava

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