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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

Authors

  1. * Correspondence to
    Dr Meena Balasubramanian, Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK; meena.balasubramanian{at}nhs.net
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Citation

Balasubramanian M, Willoughby J, Fry AE, et al
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

Publication history

  • Received October 7, 2016
  • Revised December 6, 2016
  • Accepted December 12, 2016
  • First published January 18, 2017.
Online issue publication 
July 25, 2017

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