De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

D. L. Polla, E. J. Bhoj, J. B. G. M. Verheij, J. S. Klein Wassink-Ruiter, A. Reis, C. Deshpande, A. Gregor, K. Hill-Karfe, A. T. Vulto-van Silfhout, R. Pfundt, E. M. H. F. Bongers, H. Hakonarson, S. Berland, G. Gradek, S. Banka, K. Chandler, L. Gompertz, S. C. Huffels, C. T. R. M. Stumpel, R. WennekesA. P. A. Stegmann, W. Reardon, E. K. S. M. Leenders, B. B. A. de Vries, D. Li, E. Zackai, N. Ragge, S. A. Lynch, S. Cuddapah, H. van Bokhoven, C. Zweier, A. P. M. de Brouwer*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

6 Citations (Web of Science)
Original languageEnglish
Pages (from-to)645-652
Number of pages8
JournalGenetics in Medicine
Volume23
Issue number4
Early online date27 Nov 2020
DOIs
Publication statusPublished - Apr 2021

Keywords

  • FG SYNDROME
  • MENTAL-RETARDATION
  • MEDIATOR COMPLEX
  • OHDO SYNDROME
  • MUTATION
  • BLEPHAROPHIMOSIS
  • GENE
  • TRANSCRIPTION
  • DELINEATION
  • PHENOTYPE

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