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Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

  • Hyung Goo Kim*
  • , Jill A. Rosenfeld
  • , Daryl A. Scott
  • , Gerard Bénédicte
  • , Jonathan D. Labonne
  • , Jason Brown
  • , Marianne McGuire
  • , Sonal Mahida
  • , Sakkubai Naidu
  • , Jacqueline Gutierrez
  • , Gaetan Lesca
  • , Vincent Des Portes
  • , Ange Line Bruel
  • , Arthur Sorlin
  • , Fan Xia
  • , Yline Capri
  • , Eric Muller
  • , Dianalee McKnight
  • , Erin Torti
  • , Franz Rüschendorf
  • Oliver Hummel, Zeyaul Islam, Prasanna R. Kolatkar, Lawrence C. Layman, Duchwan Ryu, Il Keun Kong, Suneeta Madan-Khetarpal, Cheol Hee Kim
*Corresponding author for this work
  • Baylor College of Medicine
  • Hôpital civil
  • Augusta University
  • Baylor Genetics, LLC
  • Kennedy Krieger Institute
  • Hospices civils de Lyon
  • Institut national de la santé et de la recherche médicale
  • Université de Bourgogne
  • Institut National de la Santé et de la Recherche Médicale
  • Stanford University
  • OPKO Health, Inc.
  • Max Delbrück Center for Molecular Medicine in the Helmholtz Association
  • Northern Illinois University
  • Gyeongsang National University
  • University of Pittsburgh
  • Chungnam National University

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Biochemistry, Genetics and Molecular Biology