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Case Reports: Rare disease
Whole exome sequencing based identification of a case of cardiofaciocutaneous syndrome type 3: the benefits of new sequencing technology in children with neurodevelopmental delay

Authors

  1. Correspondence to Dr Daniel O'Reilly; daniel.oreilly2{at}ucdconnect.ie
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Citation

O'Reilly D, Dempsey S, O'Grady MJ, et al
Whole exome sequencing based identification of a case of cardiofaciocutaneous syndrome type 3: the benefits of new sequencing technology in children with neurodevelopmental delay
BMJ Case Reports CP 2022;15:e251871.

Publication history

  • Accepted October 30, 2022
  • First published November 8, 2022.
Online issue publication 
July 04, 2023

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© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.