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- An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism
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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
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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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