Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

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Title:	Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
Author(s):	Bruel, Ange-Line; Bigoni, S.; Kennedy, Joanna; Whiteford, M.L.; Buxton, Chris; Parmeggiani, Giulia; Bon, B.W. van ; Brunner, H.G. ; Hoischen, A. ; Thauvin-Robinet, Christel; Thevenon, J.
Publication year:	2017
Source:	Journal of Medical Genetics, vol. 54, iss. 12, (2017), pp. 830-835
ISSN:	0022-2593
DOI:	https://doi.org/10.1136/jmedgenet-2017-104748
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/180428
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Subject:	All institutes and research themes of the Radboud University Medical Center Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
Organization:	Human Genetics Internal Medicine
Journal title:	Journal of Medical Genetics
Volume:	vol. 54
Issue:	iss. 12
Page start:	p. 830
Page end:	p. 835

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