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CONTEXT Mutations in dual oxidase (DUOX2) have been proposed as a cause of congenital hypothyroidism. Previous reports suggest that biallelic mutations of DUOX2 cause permanent congenital hypothyroidism and that monoallelic mutations cause transient congenital hypothyroidism. OBJECTIVE To clarify the inheritance of hypothyroidism, we looked at the DUOX2(More)
362 C rigler-Najjar syndrome type II (CN-II; # Mendelian Inheritance in Man [MIM] 606785) is a moderate type of hereditary unconjugated hyperbilirubinemia caused by mutations of the bilirubin uridine diphosphate-glucuronosyltransferase gene UGT1A1 (1). Diagnosis of this syndrome is important in distinguishing it from the severe phenotype of hereditary(More)
Crigler-Najjar syndrome type I (CN-I; MIM #218800) is the most severe type of hereditary unconjugated hyperbilirubinemia, a disease first recognized by Crigler and Najjar in 1952 (1). This syndrome is caused by mutations of bilirubin UDP-glucuronosyltransferase (UGT1A1; EC 2.4.1,17), which catalyzes glucuronidation of bilirubin from the hydrophobic form to(More)
Prolonged unconjugated hyperbilirubinemia in infants associated with breast milk feeding is a common pediatric problem known as breast milk jaundice (BMJ). A polymorphic mutation (G71R) of bilirubin UDP-glucuronosyltransferase (UGT1A1) is a known cause of BMJ on the infantile side, but the responsible components of breast milk are not currently known. We(More)
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