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

ConclusionsThe study is the first to identify two rare compound variants inEVC2 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.

Source: Molecular Genetics & Genomic Medicine - July 24, 2023 Category: Genetics & Stem Cells Authors: Jianlong Zhuang, Shufen Liu, Junyu Wang, Yu'e Chen, Hegan Zhang, Yuying Jiang, Gaoxiong Wang, Chunnuan Chen Tags: CLINICAL REPORT Source Type: research