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

doi:10.1002/mgg3.2183

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Article

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

Molecular genetics & genomic medicine - 1 Aug 2023

Wang Jie, Wang Xiaohua, Jia Yueqi, Li Xiangnan, Liu Guohui, Sa Rula, Yu Haiquan

Abstract excerpt

BACKGROUND: Ellis-van Creveld (EvC) syndrome, caused by variants in EVC, is a rare genetic skeletal dysplasia. Its clinical phenotype is highly diverse. EvC syndrome is rarely reported in prenatal stages because its presentation overlaps with other diseases. METHODS: A Chinese pedigree diagnosed with EvC syndrome was enrolled in this study. Whole-exome sequencing (WES) was applied in the proband to screen...

Topics

Humans
Membrane Proteins
Intercellular Signaling Peptides and Proteins
Ellis-Van Creveld Syndrome
Mutation
Fetus

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Identifiers

PMID: 37157924
DOI: 10.1002/mgg3.2183
PMCID: PMC10422067

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