Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome

C. V. M. Steinbusch, K. E. P. van Roozendaal, D. Tserpelis, E. E. J. Smeets, T. J. Kranenburg-de Koning, K. H. de Waal, C. Zweier, A. Rauch, R. C. M. Hennekam, M. J. Blok, C. T. R. M. Schrander-Stumpel*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)73-77
JournalClinical Genetics
Issue number1
Publication statusPublished - Jan 2013


  • familial occurrence
  • Pitt-Hopkins syndrome
  • somatic mosaicism
  • TCF4

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