Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.

Naye ChoiHwa Young KimByung Chan LimJong-Hee ChaeSoo Yeon KimJung Min Ko

Published in: Molecular genetics & genomic medicine (2021)

To date, this is the largest cohort of patients with RSTS including EP300-related patients in Korea. Future large-scale studies to find genetic mutation of molecularly unsolved patients and long-term prospective studies are required to validate our results.

Keyphrases

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