16p13.11 微复制与增长迟缓和发育障碍:一个案例报告和文献综述

Daisuke Watanabe1, Hideaki Yagasaki1, Hiromune Narusawa1

  • 1Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Japan.

概括

像16p13.11微复制这样的遗传变异可能会导致儿童的矮身和发育迟缓. 这项研究强调了这种遗传疾病的各种症状和诊断挑战.

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