Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.
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F. de Zegher | G. Matthijs | D. Garozzo | J. Jaeken | L. Sturiale | R. Zeevaert | M. Moens | M. Smet