Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

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Title:	Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome
Author(s):	Damme, T. Van; Pang, Xiaomeng; Guillemyn, B.; Gulberti, Sandrine; Syx, D.; Rycke, R. de; Pfundt, R.P. ; Fournel-Gigleux, S.; Malfait, F.
Publication year:	2018
Source:	Human Molecular Genetics, vol. 27, iss. 20, (2018), pp. 3475-3487
ISSN:	0964-6906
DOI:	https://doi.org/10.1093/hmg/ddy234
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/199419
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Subject:	All institutes and research themes of the Radboud University Medical Center Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
Organization:	Human Genetics
Journal title:	Human Molecular Genetics
Volume:	vol. 27
Issue:	iss. 20
Page start:	p. 3475
Page end:	p. 3487