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Diagnostics
Original research
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome

Authors

  • Samuel W Baker Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Kelly A Duffy Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Jennifer Richards-Yutz Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Matthew A Deardorff Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Jennifer M Kalish Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Arupa Ganguly Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Arupa Ganguly, Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; ganguly{at}pennmedicine.upenn.edu; Dr Jennifer M Kalish, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; kalishj{at}email.chop.edu
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Citation

Baker SW, Duffy KA, Richards-Yutz J, et al
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
Journal of Medical Genetics 2021;58:178-184.

Publication history

  • Received August 9, 2019
  • Revised March 19, 2020
  • Accepted April 2, 2020
  • First published May 19, 2020.
Online issue publication 
February 18, 2021

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© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.