A homozygous EVC mutation in a prenatal fetus with Ellis –van Creveld syndrome

ConclusionThis is the first reported case of EvC syndrome based on a splicing variant and detailed delineation of the aberrant splicing effect in the fetus. Our study demonstrates the pathogenesis of this new variant, expands the spectrum ofEVC mutations, and demonstrates that WES is a powerful tool in the clinical diagnosis of diseases with genetic heterogeneity.

Source: Molecular Genetics & Genomic Medicine - May 9, 2023 Category: Genetics & Stem Cells Authors: Jie Wang, Xiaohua Wang, Yueqi Jia, Xiangnan Li, Guohui Liu, Rula Sa, Haiquan Yu Tags: ORIGINAL ARTICLE Source Type: research