Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.

Hang YangYanyun MaMingyao LuoGuoyan ZhuYinhui ZhangBinbin LiChang ShuZhou Zhou

Published in: Orphanet journal of rare diseases (2020)

To date, this was the largest cohort of LDS patients ever reported in China, and the present study expanded the known mutation and phenotypic spectra of LDS, which might help refine our knowledge of LDS.

Keyphrases

end stage renal disease
chronic kidney disease
ejection fraction
newly diagnosed
healthcare
prognostic factors
peritoneal dialysis
gene expression
single cell
case report
molecular dynamics