RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation

J. Jaeken, W. Vleugels, L. Régal, C. Corchia, N. Goemans, M. A. Haeuptle, F. Foulquier, T. Hennet, G. Matthijs, C. Dionisi-Vici

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Medicine & Life Sciences