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Genotype-phenotype correlations
Original article
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes

Authors

  • Anna Lindstrand Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Giedre Grigelioniene Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Daniel Nilsson Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden PubMed articlesGoogle scholar articles
  • Maria Pettersson Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Wolfgang Hofmeister Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Britt-Marie Anderlid Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Sarina G. Kant Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articlesGoogle scholar articles
  • Claudia A L Ruivenkamp Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articlesGoogle scholar articles
  • Peter Gustavsson Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Helena Valta Children's Hospital, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland PubMed articlesGoogle scholar articles
  • Stefan Geiberger Department of Pediatric Radiology, Karolinska University Hospital Solna, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Alexandra Topa Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden PubMed articlesGoogle scholar articles
  • Kristina Lagerstedt-Robinson Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Fulya Taylan Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden PubMed articlesGoogle scholar articles
  • Josephine Wincent Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Tobias Laurell Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Minna Pekkinen Folkhälsan Institute of Genetics, Helsinki, Finland PubMed articlesGoogle scholar articles
  • Magnus Nordenskjöld Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Outi Mäkitie Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden Children's Hospital, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland Folkhälsan Institute of Genetics, Helsinki, Finland PubMed articlesGoogle scholar articles
  • Ann Nordgren Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Anna Lindstrand, and Ann Nordgren Department of Molecular Medicine and Surgery, Karolinska Institutet, Clinical Genetics Unit, Karolinska Institutet and Karolinska University Hospital Solna, Stockholm S-171 76, Sweden; Anna.Lindstrand{at}ki.se
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Citation

Lindstrand A, Grigelioniene G, Nilsson D, et al
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Journal of Medical Genetics 2014;51:45-54.

Publication history

  • Received August 5, 2013
  • Revised October 5, 2013
  • Accepted October 8, 2013
  • First published November 7, 2013.
Online issue publication 
April 27, 2016

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