基因组洞察力对婴儿出生时的矮身的基因组洞察力:一项韩国多中心外体研究

Yena Lee1, Hwal Rim Jeong2, Eun Young Kim3

  • 1Department of Pediatrics, Hallym University Sacred Heart Hospital, Anyang, Republic of Korea.

概括

基因检测确定了17.8%的妊娠年龄 (SGA) 矮小 (SGA-SS) 儿童的原因. 副本数变异 (CNVs) 和单核酸变异 (SNVs) 是关键发现,有助于发育迟缓患者的诊断.

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