Variants in the degron motif of AFF3 cause a multi-sytem disorder with skeletal dysplasia and severe neurologic involvement

N. Voisin, R. E. Schnur,S. Douzgou, A. J. Tanaka, C. F. Rustad, S. M. Hiatt,E. Del Giudice, A. Mikhaleva,B. Yalcin,D. Donnai,N. Brunetti-Pierri,A. Reymond, W. K. Chung

EUROPEAN JOURNAL OF HUMAN GENETICS(2018)

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