A study identifies the first Asian family cluster with Riddle syndrome linked to an RNF168 mutation, presenting with pulmonary fibrosis and achalasia. This discovery adds to the understanding of the genetic basis of Riddle syndrome.
riddle syndrome with rnf168 mutation in first asian family cluster exhibiting pulmonary fibrosis and achalasia
Original title: “Riddle syndrome with RNF168 mutation in first Asian family cluster exhibiting pulmonary fibrosis and achalasia.”