Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.

Sha YuBingbing WuYanyan QianPing ZhangYulan LuXinran DongQing WangXuemei ZhaoRenchao LiuWenhao ZhouHuijun Wang

Published in: Molecular genetics & genomic medicine (2019)

We reported the genetic and clinical information of 18 RSTS patients from Chinese population with novel CREBBP variants. This study provides a new insight into RSTS and illustrates the value of applying CES which increases the diagnostic yields and enhances the clinical care of RSTS patients.

Keyphrases

high frequency
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
healthcare
peritoneal dialysis
prognostic factors
palliative care
transcranial magnetic stimulation
genome wide
gene expression
single cell
health information
social media
patient reported
quality improvement