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 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
*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

62 Citations (Scopus)

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Keyphrases

Biochemistry, Genetics and Molecular Biology