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

Fulltext present in this item

Fulltext: 180428.pdf

Format: PDF

Description: publisher's version

Embargo: until further notice

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:	http://dx.doi.org/10.1136/jmedgenet-2017-104748
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/180428
Display more details
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 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

Electronic publications [72030]
Freely accessible full text publications plus those not yet available due to embargo
Faculty of Medical Sciences [64056]
Academic publications [162475]
Academic output Radboud University