Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.

Jianlong Zhuang,Shufen Liu,Junyu Wang,Yu'e Chen,Hegan Zhang,Yuying Jiang,Gaoxiong Wang,Chunnuan Chen

Molecular genetics & genomic medicine（2023）

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摘要

The study is the first to identify two rare compound variants in EVC2 gene in a Chinese family using whole exome sequencing. The application of whole-exome sequencing would be helpful in fetal etiological diagnosis with ultrasound anomalies.

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关键词

prenatal whole exome,heterozygous variants,syndrome

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