A novel structural variant of RET causes familial Hirschsprung's disease via nonsense-mediated mRNA decay

• Qi Wang,
• Siyu Pu,
• Bo Xiang,
• Jing Chen

Affiliations

Qi Wang

Department of Pediatric Surgery and Laboratory of Pediatric Surgery, Rare Diseases Center, Institute of Immunology and Inflammation, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China

Siyu Pu

Department of Pediatric Surgery and Laboratory of Pediatric Surgery, Rare Diseases Center, Institute of Immunology and Inflammation, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China

Bo Xiang

Corresponding author. West China Hospital, Sichuan University, 37# Guoxue Alley, Chengdu, Sichuan 610041, China. Tel.: +86 28 85164132; fax: +86 28 85423453.; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, Rare Diseases Center, Institute of Immunology and Inflammation, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China

Jing Chen

Corresponding author. West China Hospital, Sichuan University, 37# Guoxue Alley, Chengdu, Sichuan 610041, China. Tel.: +86 28 85164132; fax: +86 28 85423453.; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, Rare Diseases Center, Institute of Immunology and Inflammation, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China