Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature

M. Balasubramanian, J. Willoughby, A. E. Fry, A. Weber, H. V. Firth, C. Deshpande, J. N. Berg, K. Chandler, K. A. Metcalfe, W. Lam, D. Pilz, S. Tomkins, Deciphering Developmental Disorders (DDD) Study

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