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Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

  • Kamal Khan
  • , Michael Zech
  • , Angela T. Morgan
  • , David J. Amor
  • , Matej Skorvanek
  • , Tahir N. Khan
  • , Michael S. Hildebrand
  • , Victoria E. Jackson
  • , Thomas S. Scerri
  • , Matthew Coleman
  • , Kristin A. Rigbye
  • , Ingrid E. Scheffer
  • , Melanie Bahlo
  • , Matias Wagner
  • , Daniel D. Lam
  • , Riccardo Berutti
  • , Petra Havránková
  • , Anna Fečíková
  • , Tim M. Strom
  • , Vladimir Han
  • Petra Dosekova, Zuzana Gdovinova, Franco Laccone, Muhammad Jameel, Marie R. Mooney, Shahid M. Baig, Robert Jech, Erica E. Davis, Nicholas Katsanis, Juliane Winkelmann
  • Duke University Medical Center
  • Physik-department, Technische Universität München
  • University of Melbourne

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

Original languageEnglish
Pages (from-to)2532-2542
Number of pages11
JournalGenetics in Medicine
Volume21
Issue number11
DOIs
StatePublished - Nov 1 2019
Externally publishedYes

ASJC Scopus Subject Areas

  • Genetics(clinical)

Keywords

  • ataxia
  • childhood apraxia of speech
  • developmental delay
  • dolichocephaly
  • homozygosity mapping

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