A Case Report: One Monozygotic Twins Due to Two Novel Heterozygous Mutations of the SLC26A3 Gene Suspected with Congenital Chloride Diarrhea by Prenatal Ultrasonography

Congenital chloride diarrhea (CCD) is a rare autosomal recessive genetic disorder. We report a case of monozygotic twins suspected with CCD by prenatal ultrasound in China and found two heterozygous mutations: c.1154G > A (p.C385Y) and c.184T > C (p.S62P) of SLC26A3, which have not been reported in the article.