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

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

期刊名称European Journal of Human Genetics
作者Jansen, Sandra; Hoischen, Alexander; Coe, Bradley P.; Carvill, Gemma L.; Van Esch, Hilde; Bosch, Daniëlle G. M.; Andersen, Ulla A.; Baker, Carl; Bauters, Marijke; Bernier, Raphael A.; van Bon, Bregje W.; Claahsen-van der Grinten, Hedi L.; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen, David; Kvarnung, Malin; Larsen, Martin J.; Marcelis, Carlo; McKenzie, Fiona; Monin, Marie-Lorraine; Nava, Caroline; Schuurs-Hoeijmakers, Janneke H.; Pfundt, Rolph; Steehouwer, Marloes; Stevens, Servi J. C.; Stumpel, Connie T.; Vansenne, Fleur; Vinci, Mirella; van de Vorst, Maartje; Vries, Petra de; Witherspoon, Kali; Veltman, Joris A.; Brunner, Han G.; Mefford, Heather C.; Romano, Corrado; Vissers, Lisenka E. L. M.; Eichler, Evan E.; de Vries, Bert B. A.
印刷ISSN1018-4813
电子ISSN1476-5438
文件大小1230.87KB
发表时间2017-12-5
DOI10.1038/s41431-017-0039-5

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