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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
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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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
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