Novel mutations in NOTCH2 gene in infants with neonatal cholestasis
نویسندگان
چکیده
منابع مشابه
Neonatal cholestasis in Thai infants.
The objective of this study was to study etiologies and outcome of neonatal cholestasis in Thai infants. The medical records of infants aged less than 3 months with the diagnosis of neonatal cholestasis in Department of Pediatrics, Siriraj Hospital from 1993 to 2004 were retrospectively reviewed. The etiologies were diagnosed by history, physical examination, and proper investigations. There we...
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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, an...
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OBJECTIVE Alpha1-antitrypsin deficiency (A1ATD) is the most important indication for liver transplantation in children. The gene frequencies vary in different ethnic groups. In the present study, we attempt to determine the frequencies of the most common defective alleles, Z and S, in Iranian children suffering from idiopathic neonatal cholestasis. Eighty-seven infants were typed for Z and S al...
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ژورنال
عنوان ژورنال: Pediatric Reports
سال: 2019
ISSN: 2036-7503,2036-749X
DOI: 10.4081/pr.2019.8206