Congenital diarrhea and enteropathies caused by a heterozygous mutation in the GUCY2C gene: a rare case report

A heterozygous mutation in the <i>GUCY2C</i> gene (c.2356T > C) was identified as the cause of this rare congenital diarrheal disorder. These findings emphasize the essential function of genetic testing in children with chronic, treatment-refractory diarrhea and highlight the potential for excellent long-term outcomes with suitable supportive care.