Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome
Joint Authors
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-03-29
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Brennan, Alisa& Kesavan, Anil. 2017. Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome. Case Reports in Pediatrics،Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1149198
Modern Language Association (MLA)
Brennan, Alisa& Kesavan, Anil. Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome. Case Reports in Pediatrics No. 2017 (2017), pp.1-4.
https://search.emarefa.net/detail/BIM-1149198
American Medical Association (AMA)
Brennan, Alisa& Kesavan, Anil. Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome. Case Reports in Pediatrics. 2017. Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1149198
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1149198