A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Sandra Jansen, Alexander Hoischen, Bradley P. Coe, Gemma L. Carvill, Hilde Van Esch, Danielle G. M. Bosch, Ulla A. Andersen, Carl Baker, Marijke Bauters, Raphael A. Bernier, Bregje W. van Bon, Hedi L. Claahsen-van der Grinten, Jozef Gecz, Christian Gilissen, Lucia Grillo, Anna Hackett, Tjitske Kleefstra, David Koolen, Malin Kvarnung, Martin J. LarsenCarlo Marcelis, Fiona McKenzie, Marie-Lorraine Monin, Caroline Nava, Janneke H. Schuurs-Hoeijmakers, Rolph Pfundt, Marloes Steehouwer, Servi J. C. Stevens, Connie T. Stumpel, Fleur Vansenne, Mirella Vinci, Maartje van de Vorst, Petra de Vries, Kali Witherspoon, Joris A. Veltman, Han G. Brunner, Heather C. Mefford, Corrado Romano, Lisenka E. L. M. Vissers, Evan E. Eichler, Bert B. A. de Vries*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)54-63
Number of pages10
JournalEuropean Journal of Human Genetics
Volume26
Issue number1
DOIs
Publication statusPublished - 1 Jan 2018

Keywords

  • DE-NOVO MUTATIONS
  • DOMAIN-INTERACTING PROTEIN
  • LINKED MENTAL-RETARDATION
  • AUTISM SPECTRUM DISORDERS
  • OF-FUNCTION MUTATIONS
  • DEVELOPMENTAL DELAY
  • SIGNALING PATHWAYS
  • UBIQUITIN LIGASE
  • GENES
  • SCHIZOPHRENIA

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