Annals of Pediatric Endocrinology & Metabolism


First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review: 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; DOI: https://doi.org/10.6065/apem.2142134.067
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Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity: Minji Im, Ari Song, Jiyeon Kim, Min-Sun Kim, Sae-Mi Lee, Mi Jin Kim, Sung Yoon Cho, Dong-Kyu Jin; Ann Pediatr Endocrinol Metab. 2022;27(3):229-235. Published online October 18, 2021; DOI: https://doi.org/10.6065/apem.2142042.021
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Tailored management of life-threatening complications related to severe obesity in a young adult with Prader-Willi syndrome: Min-Sun Kim, Jiyeon Kim, Joongbum Cho, Sung Yoon Cho, Dong-Kyu Jin; Ann Pediatr Endocrinol Metab. 2022;27(2):148-152. Published online October 18, 2021; DOI: https://doi.org/10.6065/apem.2142022.011
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Hypertriglyceridemia with acute pancreatitis in a 14-year-old girl with diabetic ketoacidosis: Hyojung Park, Min-Sun Kim, Jiyeon Kim, Sae-Mi Lee, Sung Yoon Cho, Eun-Gyong Yoo, Dong-Kyu Jin; Ann Pediatr Endocrinol Metab. 2022;27(1):73-77. Published online May 14, 2021; DOI: https://doi.org/10.6065/apem.2040250.125
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Prader-Willi syndrome: an update on obesity and endocrine problems: Su Jin Kim, Sung Yoon Cho, Dong-Kyu Jin; Ann Pediatr Endocrinol Metab. 2021;26(4):227-236. Published online December 31, 2021; DOI: https://doi.org/10.6065/apem.2142164.082
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Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue: Hosun Bae, Min-Sun Kim, Hyojung Park, Ja-Hyun Jang, Jong-Moon Choi, Sae-Mi Lee, Sung Yoon Cho, Dong-Kyu Jin; Ann Pediatr Endocrinol Metab. 2020;25(1):46-51. Published online March 31, 2020; DOI: https://doi.org/10.6065/apem.2020.25.1.46
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A case of de novo 18p deletion syndrome with panhypopituitarism: Aram Yang, Jinsup Kim, Sung Yoon Cho, Ji-Eun Lee, Hee-Jin Kim, Dong-Kyu Jin; Ann Pediatr Endocrinol Metab. 2019;24(1):60-63. Published online March 31, 2019; DOI: https://doi.org/10.6065/apem.2019.24.1.60
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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets: Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin; Ann Pediatr Endocrinol Metab. 2018;23(4):229-234. Published online December 31, 2018; DOI: https://doi.org/10.6065/apem.2018.23.4.229
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De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism: Jung-Eun Moon, Su-Jeong Lee, Suk-Hyun Park, Jinsup Kim, Dong-Kyu Jin, Cheol Woo Ko; Ann Pediatr Endocrinol Metab. 2018;23(2):107-111. Published online June 20, 2018; DOI: https://doi.org/10.6065/apem.2018.23.2.107
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Etiological trends in male central precocious puberty: Jisun Lee, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin; Ann Pediatr Endocrinol Metab. 2018;23(2):75-80. Published online June 20, 2018; DOI: https://doi.org/10.6065/apem.2018.23.2.75
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An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing: Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin; Ann Pediatr Endocrinol Metab. 2017;22(3):203-207. Published online September 28, 2017; DOI: https://doi.org/10.6065/apem.2017.22.3.203
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2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis: Eun-Kyung Cho, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin; Ann Pediatr Endocrinol Metab. 2017;22(2):129-132. Published online June 28, 2017; DOI: https://doi.org/10.6065/apem.2017.22.2.129
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Guidelines for genetic skeletal dysplasias for pediatricians: Sung Yoon Cho, Dong-Kyu Jin; Ann Pediatr Endocrinol Metab. 2015;20(4):187-191. Published online December 31, 2015; DOI: https://doi.org/10.6065/apem.2015.20.4.187
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Elevation of serum creatine kinase during methimazole treatment of Graves disease in a 13-year-old girl and a literature review of similar cases: Hyeseon Kim, Jinsup Kim, Rimm Huh, Sung Yoon Cho, Dong-Kyu Jin; Ann Pediatr Endocrinol Metab. 2015;20(2):106-109. Published online June 30, 2015; DOI: https://doi.org/10.6065/apem.2015.20.2.106
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Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion: Aram Yang, Yeon Hee Lee, Soon Young Nam, Yu Ju Jeong, Yechan Kyung, Rimm Huh, Jieun Lee, Younghee Kwun, Sung Yoon Cho, Dong-Kyu Jin; Ann Pediatr Endocrinol Metab. 2015;20(1):40-45. Published online March 31, 2015; DOI: https://doi.org/10.6065/apem.2015.20.1.40
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