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- A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism
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Chiwoo Kim
, Eu-seon Noh, Sung Yoon Cho - Ann Pediatr Endocrinol Metab. 2023;28(Suppl 1):S12-S13. Published online February 1, 2023
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- Mixed diabetic ketoacidosis and hyperglycemic hyperosmolarity in a girl with nephronophthisis 4 presenting with rhabdomyolysis and pancreatitis
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Eu-Seon Noh, Chiwoo Kim, Sung Yoon Cho
- Ann Pediatr Endocrinol Metab. 2023;28(Suppl 1):S1-S2. Published online December 31, 2023
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- First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review
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Ari Song, Minji Im, Min-Sun Kim, Eu Seon Noh, Chiwoo Kim, Jahyun Jang, Sae-Mi Lee, Chang-Seok Ki, Sung Yoon Cho, Dong-Kyu Jin
- Ann Pediatr Endocrinol Metab. 2023;28(1):67-72. Published online January 18, 2022
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