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

@article{Kim2012TranslocationsDP,
  title={Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.},
  author={Hyung-Goo R. Kim and Hyun-Taek Kim and Natalia Tszine Leach and Fei Lan and Reinhard Ullmann and Asli Silahtaroglu and Ingo Kurth and Anja Nowka and Ihn Sik Seong and Yiping Shen and Michael E Talkowski and Douglas M. Ruderfer and Ji-Hyun Lee and Caron D. Glotzbach and Kyungsoo Ha and Susanne Kjaergaard and Alex V. Levin and Bernd F. M. Romeike and Tjitske Kleefstra and Oliver Bartsch and Sarah H Elsea and Ethylin Wang Jabs and Marcy E. MacDonald and David J. Harris and Bradley J Quade and H. -H. Ropers and Lisa G. Shaffer and Kerstin Kutsche and Lawrence C. Layman and Niels Tommerup and Vera M. Kalscheuer and Yang Shi and Cynthia C Morton and Cheol-Hee Kim and James F. Gusella},
  journal={American journal of human genetics},
  year={2012},
  volume={91 1},
  pages={56-72}
}
Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes responsible for multiple exostoses and parietal foramina in PSS, the identity of the gene(s) associated with the ID and CFA phenotypes has remained elusive. Through characterization of independent… CONTINUE READING