Jo-Yu Chen

Riddle syndrome with RNF168 mutation in first Asian family cluster exhibiting pulmonary fibrosis and achalasia.

Riddle syndrome is a rare autosomal recessive disorder caused by RNF168 mutations, characterized by radiosensitivity, immunodeficiency, and dysmorphic features. We reported the first Asian family cluster involving a homozygous RNF168 c.91T>C (p.Cys31Arg) mutation in three siblings. The proband, a 37-year-old female, pr...