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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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- A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
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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
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