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 van 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 Lönnqvist, 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 ArticleScientificpeer-review

Original languageEnglish
JournalJournal of Medical Genetics
Volume55
Issue number2
Pages (from-to)104-113
Number of pages10
ISSN0022-2593
DOIs
Publication statusPublished - Feb 2018
MoE publication typeA2 Review article in a scientific journal

Fields of Science

  • 5Q31.3 MICRODELETION SYNDROME
  • POSTNATAL BRAIN-DEVELOPMENT
  • ALPHA
  • REVEALS
  • PATIENT
  • GENES
  • 3112 Neurosciences
  • 3124 Neurology and psychiatry

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