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UGT1A1 gene mutation and hyperthyroidism combined with hepatic failure: Case report and literature review

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机构: [1]Department of Endocrinology and Metabolism, First Affiliated Hospital of Kunming Medical University, Kunming, 650032, China
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A 20-year-old man was referred to our center with hyperthyroidism and hyperbilirubinemia. Hyperthyroidism combined by hepatic failure had been diagnosed on the basis of the Clinical and laboratory findings. Because of the presence of associated UGT1A1 gene polymorphism: c.211G>A, p. (Gly71Arg) missense mutation, a diagnosis of Crigler-Najjar syndrome type II was established. © VDE VERLAG GMBH · Berlin · Offenbach.

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第一作者机构: [1]Department of Endocrinology and Metabolism, First Affiliated Hospital of Kunming Medical University, Kunming, 650032, China
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