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Jeon MJ, Park SG, Kim MJ, Lim BC, Kim KJ, Chae JH, , Kim SY.  Shprintzen&#8211;Goldberg syndrome with a novel missense mutation of <i>SKI</i> in a 6-month-old boy.  Journal of Genetic Medicine 2020;17:43-46.  https://doi.org/10.5734/JGM.2020.17.1.43