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

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

Publication date December 5, 2017
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