Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Molecular genetics & genomic medicine - 1 Oct 2023

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

Abstract excerpt

BACKGROUND: Pathogenic mutations in EVC or EVC2 gene can lead to Ellis-van Creveld (EvC) syndrome, which is a rare autosomal recessive skeletal dysplasia disorder. This study aimed to determine pathogenic gene variations associated with EvC syndrome in fetuses showing ultrasound anomalies. METHODS: A 32-year-old pregnant woman from Quanzhou, China was investigated. In her pregnancy examination, the fetus...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ellis-Van Creveld Syndrome
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Intercellular Signaling Peptides and Proteins

Share to Mutation

Share to Pedigree

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Open in PubMed Open full text

Identifiers

PMID: 37485807
DOI: 10.1002/mgg3.2242
PMCID: PMC10568384

Genes

EVC2
EVC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.PMID 37485807Read ↗

A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.Semantic proximity Read ↗

Ellis-van Creveld syndrome: Report of a case and recurrent variant.Semantic proximity Read ↗

Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.Semantic proximity Read ↗

Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.Semantic proximity Read ↗

Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.Semantic proximity Read ↗

Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.Semantic proximity Read ↗

Ellis-van Creveld syndrome due to a novel EVC2 variant in a patient from TurkeySemantic proximity Read ↗

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.Semantic proximity Read ↗

Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.Semantic proximity Read ↗

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.Semantic proximity Read ↗

Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome.Semantic proximity Read ↗

Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.