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Short report
Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features

Authors

  1. Correspondence to Dr Samin A Sajan, Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA; asajan{at}ambrygen.com
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Citation

Sajan SA, Ganesh J, Shinde DN, et al
Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features

Publication history

  • Received July 25, 2018
  • Revised October 17, 2018
  • Accepted November 13, 2018
  • First published November 26, 2018.
Online issue publication 
November 27, 2019

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