First-trimester prenatal diagnosis of Coffin-Siris syndrome-related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology

IF 1.3 4区医学 Q3 PEDIATRICS Congenital Anomalies Pub Date : 2023-08-04 DOI:10.1111/cga.12535

Xiang-Yi Jing, Li Zhen, Xiao-Mei Lin, Dong-Zhi Li

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Coffin-Siris综合征相关先天性膈疝的妊娠早期产前诊断:外显子组测序在确定遗传病因中的作用。

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Congenital Anomalies PEDIATRICS-

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>12 weeks

期刊介绍： Congenital Anomalies is the official English language journal of the Japanese Teratology Society, and publishes original articles in laboratory as well as clinical research in all areas of abnormal development and related fields, from all over the world. Although contributions by members of the teratology societies affiliated with The International Federation of Teratology Societies are given priority, contributions from non-members are welcomed.

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