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Original article
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
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Authors

  • Donna M McDonald-McGinn Division of Human Genetics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Somayyeh Fahiminiya Department of Human Genetics, McGill University, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Timothée Revil Department of Human Genetics, McGill University, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Beata A Nowakowska Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland PubMed articlesGoogle scholar articles
  • Joshua Suhl Department of Human Genetics, Emory University School of Medicine, Atlanta, USA PubMed articlesGoogle scholar articles
  • Alice Bailey Division of Human Genetics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Elisabeth Mlynarski Division of Human Genetics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • David R Lynch Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Albert C Yan Division of Dermatology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Larissa T Bilaniuk Division of Neuroradiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Kathleen E Sullivan Division of Allergy Immunology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Stephen T Warren Department of Human Genetics, Emory University School of Medicine, Atlanta, USA PubMed articlesGoogle scholar articles
  • Beverly S Emanuel Division of Human Genetics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Joris R Vermeesch Center for Human Genetics, Catholic University Leuven, University Hospital Gasthuisberg, Leuven, Belgium PubMed articlesGoogle scholar articles
  • Elaine H Zackai Division of Human Genetics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Loydie A Jerome-Majewska Department of Human Genetics, McGill University, Montreal, Quebec, Canada Department of Pediatrics, McGill University, Montreal Children's Hospital, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Loydie A Jerome-Majewska, Department of Pediatrics and Human Genetics, McGill University Research Institute, Place Toulon, 4060 Ste Catherine West PT 420, Montreal, QC H3Z 2Z3, Canada; loydie.majewska{at}mcgill.ca
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Citation

McDonald-McGinn DM, Fahiminiya S, Revil T, et al
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

Publication history

  • Received September 24, 2012
  • Revised November 10, 2012
  • Accepted November 13, 2012
  • First published December 11, 2012.
Online issue publication 
April 27, 2016
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