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; Full text PubReader ePub Crossref - TDM PDF Supplementary Material


Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family: Myo-Jing Kim, Young-Eun Kim, Chang-Seok Ki, Jae-Ho Yoo; Ann Pediatr Endocrinol Metab. 2014;19(4):220-224. Published online December 31, 2014; DOI: https://doi.org/10.6065/apem.2014.19.4.220
Cited By 3; Full text PubReader ePub Crossref - TDM PDF


A case of Type A insulin resistance syndrome in a 14-year-old girl without common clinical features: Nawon Lee, Jieun Jeong, Hyejin Park, Chang-seok Ki, Jin-kyung Kim; Received April 26, 2022 Accepted June 29, 2022; DOI: https://doi.org/10.6065/apem.2244106.053 [Accepted]; PDF

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