Non-Cystic Fibrosis −Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing

Meconium ileus is caused by cystic fibrosis; however, mutations in the GUCY2C gene also cause this disease. We  report non-cystic fibrosis meconium ileus in an infant of non-Middle Eastern origin with compound heterozygous mutations in GUCY2C.

Source: The Journal of Pediatrics - May 8, 2019 Category: Pediatrics Authors: Jeremy D. Woods, Kurlen S.E. Payton, Pedro A. Sanchez-Lara, Margaret Au, Charles F. Simmons, John M. Graham Tags: Brief Reports Source Type: research