Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

  • Anne Schänzer
  • , Melanie T. Achleitner
  • , Dietrich Trümbach
  • , Laurence Hubert
  • , Arnold Munnich
  • , Barbara Ahlemeyer
  • , Maha M. AlAbdulrahim
  • , Philipp A. Greif
  • , Sebastian Vosberg
  • , Blake Hummer
  • , René G. Feichtinger
  • , Johannes A. Mayr
  • , Saskia B. Wortmann
  • , Heidi Aichner
  • , Sabine Rudnik-Schöneborn
  • , Anna Ruiz
  • , Elisabeth Gabau
  • , Jacobo Pérez Sánchez
  • , Sian Ellard
  • , Tessa Homfray
  • Karen L. Stals, Wolfgang Wurst, Bernd A. Neubauer, Till Acker, Stefan K. Bohlander, Cédric Asensio, Claude Besmond, Fowzan S. Alkuraya, Moenaldeen D. AlSayed, Andreas Hahn, Axel Weber

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6 Scopus citations

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Neuroscience

Immunology and Microbiology

Biochemistry, Genetics and Molecular Biology