De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C. Herkert, Elysa J. Marco, Marjolein H. Willemsen, Tjitske Kleefstra, Mark Hannibal, Joseph T. Shieh, Sally Ann Lynch, Frances Flinter, David R. FitzPatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury-Ecob, Raphael Bernier, Malin KvarnungE. A. Helena Magnusson, Marja W. Wessels, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Petra de Vries, Joris A. Veltman, Christopher J. Lord, Lisenka E. L. M. Vissers, Bert B. A. de Vries*, Deciphering Dev Disorders Study

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)650-658
Number of pages9
JournalAmerican Journal of Human Genetics
Volume100
Issue number4
DOIs
Publication statusPublished - 6 Apr 2017

Keywords

  • DOMINANT ROBINOW SYNDROME
  • SCHIZOPHRENIA
  • FRAMESHIFT
  • SPECTRUM
  • DISEASE
  • AUTISM
  • CANCER
  • BLOOD
  • GENE
  • WIP1

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