Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

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Title:	Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
Author(s):	Schrauwen, I.; Valgaeren, Hanne; Tomas Roca, L.U.; Sommen, Manou; Altunoglu, Umut; Wesdorp, M.; Beusekom, E. van ; Gilissen, C. ; Hoischen, A. ; Cremers, C.W. ; Verbist, B.M.; Brouwer, A.P.M. de ; Padberg, G.W. ; Pennings, R.J. ; Kremer, H. ; Camp, Guy Van; Bokhoven, H. van
Publication year:	2019
Source:	Genetics in Medicine, vol. 21, iss. 5, (2019), pp. 1199-1208
ISSN:	1098-3600
DOI:	https://doi.org/10.1038/s41436-018-0300-5
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/203727
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Subject:	All institutes and research themes of the Radboud University Medical Center Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences Radboudumc 6: Mitochondrial diseases RIMLS: Radboud Institute for Molecular Life Sciences Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
Organization:	Human Genetics Internal Medicine Otorhinolaryngology Radiology Neurology Cognitive Neuroscience
Journal title:	Genetics in Medicine
Volume:	vol. 21
Issue:	iss. 5
Page start:	p. 1199
Page end:	p. 1208