Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.
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ABSTRACT:
SUBMITTER: Dedic T
PROVIDER: S-EPMC4664419 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Publications
Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.
Dědič Tomáš T Jirsa Milan M Keil Radan R Rygl Michal M Šnajdauf Jiri J Kotalová Radana R
PloS one 20151130 11
Alagille syndrome may mimic biliary atresia in early infancy. Since mutations in JAG1 typical for Alagille syndrome type 1 have also been found in biliary atresia, we aimed to identify JAG1 mutations in newborns with proven biliary atresia (n = 72). Five biliary atresia patients with cholestasis, one additional characteristic feature of Alagille syndrome and ambiguous liver histology were single heterozygotes for nonsense or frameshift mutations in JAG1. No mutations were found in the remaining ...[more]
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