Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

Hyung-Goo Kim, Hyun-Taek Kim, Natalia T Leach, Fei Lan, Reinhard Ullmann, Asli Silahtaroglu, Ingo Kurth, Anja Nowka, Ihn Sik Seong, Yiping Shen, Michael E Talkowski, Douglas Ruderfer, Ji-Hyun Lee, Caron Glotzbach, Kyungsoo Ha, Susanne Kjaergaard, Alex V Levin, Bernd F Romeike, Tjitske Kleefstra, Oliver BartschSarah H Elsea, Ethylin Wang Jabs, Marcy E MacDonald, David J Harris, Bradley J Quade, Hans-Hilger Ropers, Lisa G Shaffer, Kerstin Kutsche, Lawrence C Layman, Niels Tommerup, Vera M Kalscheuer, Yang Shi, Cynthia C Morton, Cheol-Hee Kim, James F Gusella

37 Citationer (Scopus)

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Medicin og biovidenskab