Qing-Lian Zhang

A CHD7 intronic variant induces aberrant splicing and structural alterations in the CHD7 DNA-binding domain to cause CHARGE syndrome.

OBJECTIVES CHARGE syndrome (CS), a rare inherited condition, is mainly caused by pathogenic variants in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7). In the present investigation, the genetic etiology of CS was elucidated in a Chinese patient presenting with characteristic clinical features. M...