Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

J.L. Granadillo, A.P.A. Stegmann, H. Guo, K. Xia, B. Angle, K. Bontempo, J.D. Ranells, P. Newkirk, C. Costin, J. Viront, C.T. Stumpel, M. Sinnema, B. Panis, R. Pfundt, I.P.C. Krapels, M. Klaassens, J. Nicolai, J.L. Li, Y.W. Jiang, E. MarcoA. Canton, A.C. Latronico, L. Montenegro, B. Leheup, C. Bonnet, S.M. Amudhavalli, C.E. Lawson, K. McWalter, A. Telegrafi, R. Pearson, M. Kvarnung, X. Wang, W.M. Bi, J.A. Rosenfeld, M. Shinawi

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Web of Science)
Original languageEnglish
Pages (from-to)717-724
Number of pages8
JournalJournal of Medical Genetics
Volume57
Issue number10
DOIs
Publication statusPublished - 1 Oct 2020

Keywords

  • adhd
  • argonaute
  • autism
  • autosomal dominant
  • de novo
  • de-novo
  • developmental delay
  • growth
  • intellectual disability
  • mutations
  • ADHD
  • DE-NOVO
  • ARGONAUTE
  • De novo
  • INTELLECTUAL DISABILITY
  • GROWTH
  • MUTATIONS

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