Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.

Eva Jin Hong LeAnn JewellNatario L Couser

Published in: Ophthalmic genetics (2023)

Our results suggest that currently there is no clear genotype-phenotype relationship between the type of variant and frequency of associated ocular features in RSTS patients.

Keyphrases

end stage renal disease
newly diagnosed
chronic kidney disease
ejection fraction
peritoneal dialysis
prognostic factors
patient reported outcomes