Pathogenic variants in slf2 and smc5 cause segmented chromosomes and mosaic variegated hyperploidy

HIGHLIGHTS

• who: Laura J. Grange from the Research subjects Informed consent was obtained from all participating families to take clinical samples and to publish clinical information in accordance with local approval regulations and in compliance with the Declaration of Helsinki principlesThis study was approved by the West Midlands, Coventry and Warwickshire Research Ethics Committee (REC:, WM/, ), the Scottish Multicentre Research Ethics Committee (REC:, MRE00/74), the Lancaster General Hospital Institutional Review Board and the Institutional Review Boards of Yokohama City University Graduate School of Medicine (ID:, ) and Jichi Medical University (ID:, V06). A collaboration to study the pathological . . .
  

   

  

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