Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.

Xiaoyu YuYun LinJun XuTuanjie CheLin LiTao YangHao Wu

Published in: Orphanet journal of rare diseases (2020)

Our results demonstrated that GJB2 should be a primary target for mutation screening in Chinese Han deaf patients, and those with mono-allelic GJB2 mutations should be further screened by next generation sequencing.

Keyphrases

end stage renal disease
hearing loss
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
dna methylation
cell free