A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.

Fang ShenYongjia YangPengcheng LiYu ZhengZhenqing LuoYuyan FuGuanghui ZhuHaibo MeiShanlin ChenYimin Zhu

Published in: Molecular genetics & genomic medicine (2021)

SMAD6 was mutated in 42.11% RUS pedigrees and 15.52% RUS sporadic patients. The RUS patients with SMAD6 variants exhibit both non-full-penetrance, variable expressivity, pleiotropy, female protective effects, and the left side is more susceptible than the right side.

Keyphrases

epithelial mesenchymal transition
transforming growth factor
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
copy number
gene expression
patient reported outcomes
wild type
patient reported