Abstract
Background and objective Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) which resulted from mutation in SLC25A13 gene can present transient intrahepatic cholestasis, low birth weight, growth retardation, hypoproteinemia, prolong jaundice, chronic liver disease and so on. This study aimed to identify mutations of SLC25A13 for 649 NICCD and 46 siblings, from September 2009 to December 2014 and prenatal diagnosis for pregnancies with high risk of NICCD.
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