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- First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)
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Cha Gon Lee
, Ja-Hyun Jang, Ji-Young Seo - Ann Pediatr Endocrinol Metab. 2019;24(4):253-256. Published online December 31, 2019
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- Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene
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Won Kyoung Cho, Moon-Bae Ahn, Woori Jang, Hyojin Chae, Myungshin Kim, Byung-Kyu Suh
- Ann Pediatr Endocrinol Metab. 2018;23(4):235-239. Published online December 31, 2018
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