Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice

Nicky S. J. Halbach, Eric E. J. Smeets*, Noortje van den Braak, Kees E. P. van Roozendaal, Rien M. J. Blok, Constance T. R. M. Schrander-Stumpel, Jean-Pierre Frijns, Marian A. Maaskant, Leopold M. G. Curfs

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

19 Citations (Web of Science)
Original languageEnglish
Pages (from-to)340-350
JournalAmerican Journal of Medical Genetics Part A
Issue number2
Publication statusPublished - Feb 2012


  • Rett syndrome
  • genotype
  • phenotype
  • ISS
  • intellectual disabilities

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