Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

doi:10.1136/jmg-2023-109546

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

Community

Back to search

Article

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Journal of medical genetics - 20 Jun 2024

Altunoglu Umut, Palencia-Campos Adrian, Güneş Nilay, Turgut Gozde Tutku, Nevado Julian, Lapunzina Pablo, Valencia Maria, Iturrate Asier, Otaify Ghada, Elhossini Rasha, Ashour Adel, K Amin Asmaa, Elnahas Rania F, Fernandez-Nuñez Elisa, Flores Carmen-Lisset, Arias Pedro, Tenorio Jair, Chamorro Fernández Carlos Israel, Güven Yeliz, Özsu Elif, Eklioğlu Beray Selver, Ibarra-Ramirez Marisol, Diness Birgitte Rode, Burnyte Birute, Ajmi Houda, Yüksel Zafer, Yıldırım Ruken, Ünal Edip, Abdalla Ebtesam, Aglan Mona, Kayserili Hulya, Tuysuz Beyhan, Ruiz-Pérez Victor

Abstract excerpt

BACKGROUND: Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in EVC or EVC2. Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ellis-Van Creveld Syndrome

Share to Infant

Share to Intercellular Signaling Peptides and Proteins

Share to Membrane Proteins

Share to Nerve Tissue Proteins

Share to Proteins

Share to Zinc Finger Protein Gli3

Source

Open in PubMed

Identifiers

PMID: 38531627
DOI: 10.1136/jmg-2023-109546

Genes

EVC2
EVC
GLI3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.PMID 38531627Read ↗

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.Semantic proximity Read ↗

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.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 mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.Semantic proximity Read ↗

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.Semantic proximity Read ↗

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.Semantic proximity Read ↗

A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis.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 ↗

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

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.Semantic proximity Read ↗

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.Semantic proximity Read ↗

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

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