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

Research output: Contribution to journalArticlepeer-review

41 Citations (Scopus)
320 Downloads (Pure)

Fingerprint

Dive into the research topics of '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'. Together they form a unique fingerprint.

Keyphrases

Biochemistry, Genetics and Molecular Biology