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    Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations by Drijvers, Jefte M. (Author) , Lefeber, Dj (Author) , De Munnik, Sa (Author) , Pfundt, R (Author) , Van De Leeuw, N (Author) , Marcelis, C (Author) , Thiel, Christian (Author) , Koerner, C (Author) , Wevers, Ra (Author) , Morava, E (Author) ,


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