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Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies |
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| Authors: | 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 Bartsch Sarah 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 |
| Institution: | Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA. hkim@chgr.mgh.harvard.edu |
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| 本文献已被 ScienceDirect PubMed 等数据库收录！ | |