Identification of three novel variants in the UGT1A1 gene as a cause of
Crigler-Najjar syndrome type 1
Abstract
Crigler-Najjar syndrome type I (CN-I) is a rare inherited disorder with
a frequency of one per million at birth. Patients with CN-I have severe
hyperbilirubinemia and usually die due to kernicterus. CN-I occurs due
to variants within the UGT1A1 gene. The present study aimed to identify
genetic defects underlying CN-I.
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