Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome. (29th March 2017)

• Record Type: Journal Article
• Authors: Brennan, Alisa; Kesavan, Anil
• Other Names: Cogulu Ozgur Academic Editor.
• Is Part Of: Case reports in pediatrics. Volume 2017(2017)
• Publication Date: 2017-03-29
• Subjects: Pediatrics -- Periodicals; Pediatrics; Pediatrics; Electronic journals; Periodicals; Case Reports; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 618.92
• DOI: 10.1155/2017/1368189
• Languages: English
• ISSNs: 2090-6803

Abstract

Abstract : Alagille Syndrome (ALGS) is a rare autosomal dominant disorder that affects multiple organ systems. Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. We describe a case of ALGS with novel mutations of JAG1 and NOTCH2 genes in a newborn girl with complex congenital heart disease, bilateral dysplastic kidneys, and malrotation with volvulus.