PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Margot R. F. Reijnders, Robert Janowski, Mohsan Alvi, Jay E. Self, Ton J. van Essen, Maaike Vreeburg, Rob P. W. Rouhl, Servi J. C. Stevens, Alexander P. A. Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke Dijk, Eric Smeets, Connie T. R. M. Stumpel, Levinus A. Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate E. ChandlerSofia Douzgou, Nicola S. Cooper, Ene-Choo Tan, Roger Foo, Angeline H. M. Lai, Julia Rankin, Andrew Green, Tuula Lonnqvist, Pirjo Isohanni, Shelley Williams, Ilene Ruhoy, Karen S. Carvalho, James J. Dowling, Dorit L. Lev, Katalin Sterbova, Petra Lassuthova, Jana Neupauerova, Jeff L. Waugh, Sotirios Keros, Jill Clayton-Smith, Sarah F. Smithson, Han G. Brunner, Ceciel van Hoeckel, Mel Anderson, Virginia E. Clowes, Victoria Mok Siu, Paulo Selber, Richard J. Leventer, Christoffer Nellaker, Dierk Niessing, DDD Study

Research output: Contribution to journalReview articleAcademicpeer-review

Original languageEnglish
Pages (from-to)104-113
Number of pages10
JournalJournal of Medical Genetics
Volume55
Issue number2
DOIs
Publication statusPublished - 1 Feb 2018

Keywords

  • 5Q31.3 MICRODELETION SYNDROME
  • POSTNATAL BRAIN-DEVELOPMENT
  • ALPHA
  • REVEALS
  • PATIENT
  • GENES

Cite this

Reijnders, M. R. F., Janowski, R., Alvi, M., Self, J. E., van Essen, T. J., Vreeburg, M., Rouhl, R. P. W., Stevens, S. J. C., Stegmann, A. P. A., Schieving, J., Pfundt, R., Dijk, K., Smeets, E., Stumpel, C. T. R. M., Bok, L. A., Cobben, J. M., Engelen, M., Mansour, S., Whiteford, M., ... DDD Study (2018). PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. Journal of Medical Genetics, 55(2), 104-113. https://doi.org/10.1136/jmedgenet-2017-104946