Case report
Open access
Aug 2026
Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene
Background CHARGE syndrome (OMIM #214800) is a rare autosomal dominant multisystem disorder, most commonly attributable to de novo heterozygous loss-of-function pathogenic variants in the CHD7 gene. Pathogenic Pathogenic variants of CHD7 are distributed throughout the entire coding region, with nonsense and frameshift...
Qiong-Yu Wang, Jing-Jing Huang, Fu-Chun Wang et al.
· Frontiers in Genetics · 0 citations