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An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism
Jung Hyun Shin, Go Hun Seo, Seung Hwan Oh, Woo Yeong Chung, Hye Young Kim, Young Mi Kim, Mi Hye Bae, Kyung Hee Park, Min Jung Kwak
Ann Pediatr Endocrinol Metab. 2020;25(4):282-286.   Published online December 31, 2020
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Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets
Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak
Ann Pediatr Endocrinol Metab. 2020;25(1):63-67.   Published online March 31, 2020
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