Annals of Pediatric Endocrinology & Metabolism


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; DOI: https://doi.org/10.6065/apem.2020.25.1.63
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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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First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln): Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo; Ann Pediatr Endocrinol Metab. 2019;24(4):253-256. Published online December 31, 2019; DOI: https://doi.org/10.6065/apem.2019.24.4.253
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Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene: Seung Heo, Ja-Hyun Jang, Jeesuk Yu; Ann Pediatr Endocrinol Metab. 2019;24(3):199-202. Published online September 30, 2019; DOI: https://doi.org/10.6065/apem.2019.24.3.199
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A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene: You-Min Kim, Yoon-Young Jang, Ji-Eun Jeong, Hye-Jin Park, Ja-Hyun Jang, Jin-Kyung Kim; Ann Pediatr Endocrinol Metab. 2019;24(2):137-141. Published online June 30, 2019; DOI: https://doi.org/10.6065/apem.2019.24.2.137
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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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