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Novel truncating recessive mutations in KLHL7 gene causing Bohring-Opitz like syndrome

A. Bruel,S. Bigoni, J. Kennedy,M. Whiteford,C. Buxton,G. Parmeggiani, M. Wherlock,G. Woodward,M. Greenslade,M. Williams,J. St-Onge,A. Ferlini,G. Garani,E. Ballardini,C. Gilissen,B. van Bon, R. Acuna-Hildago, A. Borhing,J. Riviere,H. G. Brunner,A. Hoischen,R. Newbury-Ecob,C. Thauvin-Robinet,L. Faivre,J. Thevenon

EUROPEAN JOURNAL OF HUMAN GENETICS（2018）

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