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, Daniëlle 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 journalArticlepeer-review

15 Scopus citations

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Medicine & Life Sciences