Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 single-nucleotide variant versus a 3q13.31 microdeletion including ZBTB20
A. Juven,S. Nambot,A. Piton,P. Callier,C. Philippe,N. Jean-Marcais, A. Munnich,M. Rio,L. Colleaux, S. Rondeau,J. Steffann,T. Attie-Bitach, S. Thomas,S. El Chehadeh,C. Vincent Delorme,S. Bouquillon,C. Francannet, F. Laffargue,L. Gouas,S. Blesson, D. Lacombe,M. Vincent,B. Isidor, H. Journel,C. Thauvin,L. Faivre EUROPEAN JOURNAL OF HUMAN GENETICS（2019）
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