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

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)340-350
JournalAmerican Journal of Medical Genetics Part A
Volume158A
Issue number2
DOIs
Publication statusPublished - Feb 2012

Keywords

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

Cite this

Halbach, N. S. J., Smeets, E. E. J., van den Braak, N., van Roozendaal, K. E. P., Blok, R. M. J., Schrander-Stumpel, C. T. R. M., Frijns, J-P., Maaskant, M. A., & Curfs, L. M. G. (2012). Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice. American Journal of Medical Genetics Part A, 158A(2), 340-350. https://doi.org/10.1002/ajmg.a.34418