Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Files in This Item:

File	Description	Size	Format
	publisher's version	2.24 MB	Adobe PDF	Under Embargo

Title:	Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
Author(s):	Roscioli, T. (321517733) Reeuwijk, J. van (315067314) Elzen, C. van den Beusekom, E. van (298976439) Pfundt, R. Vissers, L.E.L.M. (304331627) Buckley, M.F. (32151713X) Zhou, H. (298977931) Veltman, J.A. (18674692X) Gilissen, C. Bokhoven, Hans van (11529077X)
Publication year:	2012
Document type:	Article / Letter to editor
Journal:	Nature Genetics
ISSN:	1061-4036
Volume:	vol. 44
Issue:	iss. 5
Start page:	p. 581
End page:	p. 585
Annotation:	Scientific publication
Subject:	NCMLS 3A: Genetics and epigenetic pathways of disease NCMLS 3A: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics NCMLS 3A: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders
Subject:	Molecular Developmental Biology
Organization:	Human Genetics Molecular Developmental Biology
Appears in Collections:	Academic bibliography

Please use this identifier to cite or link to this item: http://hdl.handle.net/2066/93978