High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung ’s disease

ConclusionWe identified a novel EDNRB (deleted C and inserted TT) mutation in this study using WES. Heterozygote variations in EDNRB gene were significantly enriched in three families and RET mutations were identified in one family. EDNRB variants showed an overall higher incidence and penetrance than RET in southern Chinese families cases.

http://link.springer.com/10.1007/s00383-023-05620-w

Source: Pediatric Surgery International - January 22, 2024 Category: Surgery Source Type: research