Article
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Journal of medical genetics - 1 Feb 2018
Reijnders Margot R F, Janowski Robert, Alvi Mohsan, Self Jay E, van Essen Ton J, Vreeburg Maaike, Rouhl Rob P W, Stevens Servi J C, Stegmann Alexander P A, Schieving Jolanda, Pfundt Rolph, van Dijk Katinke, Smeets Eric, Stumpel Connie T R M, Bok Levinus A, Cobben Jan Maarten, Engelen Marc, Mansour Sahar, Whiteford Margo, Chandler Kate E, Douzgou Sofia, Cooper Nicola S, Tan Ene-Choo, Foo Roger, Lai Angeline H M, Rankin Julia, Green Andrew, Lönnqvist Tuula, Isohanni Pirjo, Williams Shelley, Ruhoy Ilene, Carvalho Karen S, Dowling James J, Lev Dorit L, Sterbova Katalin, Lassuthova Petra, Neupauerová Jana, Waugh Jeff L, Keros Sotirios, Clayton-Smith Jill, Smithson Sarah F, Brunner Han G, van Hoeckel Ceciel, Anderson Mel, Clowes Virginia E, Siu Victoria Mok, Ddd Study The, Selber Paulo, Leventer Richard J, Nellaker Christoffer, Niessing Dierk, Hunt David, Baralle Diana
Abstract excerpt
BACKGROUND: De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. OBJECTIVES: To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. METHODS: Diagnostic or research-based exome or Sanger sequencing was performed...
Read the complete abstract on PubMed