PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
Background De novo mutations in PURA have recently been described to cause PURA
syndrome, a neurodevelopmental disorder characterised by severe intellectual disability …
syndrome, a neurodevelopmental disorder characterised by severe intellectual disability …
[PDF][PDF] Ddd Study
Objectives to delineate the clinical spectrum of PUra syndrome and study genotype-
phenotype correlations. Methods Diagnostic or research-based exome or Sanger …
phenotype correlations. Methods Diagnostic or research-based exome or Sanger …