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Phenotypic severity scoring system and categorisation for prune belly syndrome: application to a pilot cohort of 50 living patients.

Daniel G WongMichelle K ArevaloNiccolo Maria PassoniNida S IqbalThomas JascurAdam J KernEmma J SanchezArthi SatyanarayanJyothsna GattineniLinda A Baker
Published in: BJU international (2018)
RUBACE is a practical, organ/system level, phenotyping tool designed to grade PBS severity and categorise patients into isolated PBS, syndromic PBS, and PBS-plus groups. This standardised system will facilitate genotype-phenotype correlations and future prospective multicentre studies assessing medical and surgical treatment outcomes.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • chronic kidney disease
  • newly diagnosed
  • healthcare
  • peritoneal dialysis
  • randomized controlled trial
  • patient reported outcomes
  • autism spectrum disorder