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New disease loci
Original article
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT

Authors

  • Malin Kvarnung Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center of 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 of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden Science for Life Laboratory, Karolinska Institutet Science Park, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Anna Lindstrand Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • G Christoph Korenke Department of Neuropediatrics, Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany PubMed articlesGoogle scholar articles
  • Samuel C C Chiang Department of Medicine, Centre for Infectious Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Elisabeth Blennow Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Markus Bergmann Institute for Neuropathology, Klinikum Bremen-Mitte, Bremen, Germany PubMed articlesGoogle scholar articles
  • Tommy Stödberg Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden Department of Child Neurology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm PubMed articlesGoogle scholar articles
  • Outi Mäkitie Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Children's Hospital, Helsinki University Central Hospital, University of Helsinki, and Folkhälsan Institute of Genetics, Helsinki, Finland PubMed articlesGoogle scholar articles
  • Britt-Marie Anderlid Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden Department of Child Neurology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm PubMed articlesGoogle scholar articles
  • Yenan T Bryceson Department of Medicine, Centre for Infectious Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Magnus Nordenskjöld Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Ann Nordgren Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Malin Kvarnung and Ann Nordgren, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17176, Sweden; malin.kvarnung{at}karolinska.se, ann.nordgren{at}ki.se
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Citation

Kvarnung M, Nilsson D, Lindstrand A, et al
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
Journal of Medical Genetics 2013;50:521-528.

Publication history

  • Received March 12, 2013
  • Revised April 11, 2013
  • Accepted April 12, 2013
  • First published May 1, 2013.
Online issue publication 
July 15, 2013

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