ALG8-CDG:分子和产前表型的进步促进了产前诊断和遗传咨询

Yanlin Huang1,2, Lihua Yu1,2, Juan Zhu1,2

  • 1Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, China.

概括

这项研究报告了在两个胎儿中首次诊断出ALG8-先天性糖化化障碍 (ALG8-CDG) 的产前诊断. 结果详细介绍了产前超声波,生化和病理特征,有助于未来的诊断和咨询.

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