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 Neupauerová, 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, The Ddd Study, Paulo Selber, Richard J. Leventer, Christoffer Nellaker, Dierk Niessing, David Hunt, Diana Baralle

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

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