Cantagrel, Vincent 
; Lefeber, Dirk J. ; Ng, Bobby G. ; Guan, Ziqiang ; Silhavy, Jennifer L. ; Bielas, Stephanie L. ; Lehle, Ludwig ; Hombauer, Hans ; Adamowicz, Maciej ; Swiezewska, Ewa ; De Brouwer, Arjan P. ; Blümel, Peter ; Sykut-Cegielska, Jolanta ; Houliston, Scott ; Swistun, Dominika ; Ali, Bassam R. ; Dobyns, William B. ; Babovic-Vuksanovic, Dusica ; van Bokhoven, Hans ; Wevers, Ron A. ; Raetz, Christian R.H. ; Freeze, Hudson H. ; Morava, Éva ; Al-Gazali, Lihadh ; Gleeson, Joseph G.
; Lefeber, Dirk J. ; Ng, Bobby G. ; Guan, Ziqiang ; Silhavy, Jennifer L. ; Bielas, Stephanie L. ; Lehle, Ludwig ; Hombauer, Hans ; Adamowicz, Maciej ; Swiezewska, Ewa ; De Brouwer, Arjan P. ; Blümel, Peter ; Sykut-Cegielska, Jolanta ; Houliston, Scott ; Swistun, Dominika ; Ali, Bassam R. ; Dobyns, William B. ; Babovic-Vuksanovic, Dusica ; van Bokhoven, Hans ; Wevers, Ron A. ; Raetz, Christian R.H. ; Freeze, Hudson H. ; Morava, Éva ; Al-Gazali, Lihadh ; Gleeson, Joseph G. 
Zusammenfassung
N-linked glycosylation is the most frequent modification of secreted and membrane-bound proteins in eukaryotic cells, disruption of which is the basis of the congenital disorders of glycosylation (CDGs). We describe a new type of CDG caused by mutations in the steroid 5 alpha-reductase type 3 (SRD5A3) gene. Patients have mental retardation and ophthalmologic and cerebellar defects. We found that ...
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