A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
scientific article published on 5 December 2017
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author: Jozef Gécz, Christian Gilissen, Corrado Romano, Martin J Larsen, Servi Jc Stevens, Joris A Veltman, Evan E. Eichler, Han G. Brunner, Heather C. Mefford, David A Koolen, Rolph Pfundt, Tjitske Kleefstra, Lisenka Vissers, Alexander Hoischen, Bregje W van Bon, Marloes Steehouwer, Maartje van de Vorst, Janneke H M Schuurs-Hoeijmakers, Carlo L Marcelis, Sandra Jansen, Bert B A de Vries, Gemma L Carvill, Hilde Van Esch, Mirella Vinci, Daniëlle G M Bosch, Hedi Claahsen-van der Grinten
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