Identification of a novel EVC variant in a Han ‐Chinese family with Ellis‐van Creveld syndrome

ConclusionThe identified novel homozygousEVC variant, c.2014C>T, p.(Q672*), was responsible for EVC in this Han ‐Chinese pedigree. The findings in this study extend theEVC mutation spectrum and may provide new insights into EVC causation and diagnosis with implications for genetic counseling and clinical management.

Source: Molecular Genetics & Genomic Medicine - July 22, 2019 Category: Genetics & Stem Cells Authors: Xiangjun Huang, Yi Guo, Hongbo Xu, Zhijian Yang, Xiong Deng, Hao Deng, Lamei Yuan Tags: ORIGINAL ARTICLE Source Type: research