Identification of a novel SDHB c.563 T > C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report.

Heye ChenWei YaoQing HeXuefang YuBo Bian

Published in: BMC medical genetics (2020)

We describe a classic case with a novel SDHB c.563 T > C mutation. Based on our literature review, common SDHB gene mutations in Chinese PPGL patients are c.136C > T, c.18C > A and c.725G > A.

Keyphrases

end stage renal disease
case report
ejection fraction
newly diagnosed
genome wide
chronic kidney disease
copy number
peritoneal dialysis
gene expression
dna methylation
patient reported outcomes