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

Ellis-van Creveld syndrome in a neonate: a case report.

JPMA. The Journal of the Pakistan Medical Association - 1 Mar 2023

Asif Sana, Salahudeen Akeel Ahamed, Nadeem Ghazanfer, Sattar Abdul

Abstract excerpt

Ellis-Van Creveld Syndrome (EVC) is a rare genetic disorder with autosomal recessive inheritance, caused by mutations in two genes, EVC1 and EVC2 in the 4p16 chromosome. The exact prevalence of EVC is unknown and is estimated at approximately seven per million. It affects males and females equally. It is a constellation of four findings, including chondrodysplasia, polydactyly, ectodermal dysplasia, and...

Read the complete abstract on PubMed

Topics

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

Share to Ectodermal Dysplasia
Share to Ellis-Van Creveld Syndrome
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Pakistan

Source

Identifiers

PMID: 36932784
DOI: 10.47391/JPMA.5375

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ellis-van Creveld syndrome in a neonate: a case report.PMID 36932784Read ↗

Ellis-van Creveld syndrome.Semantic proximity Read ↗

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

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

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

Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction.Semantic proximity Read ↗

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

A Turkish family with Ellis-van Creveld syndrome in six siblings; linkage analysis on 4p16 region (D4S3360-D4S2366).Semantic proximity Read ↗

A homozygous EVC mutation in a prenatal fetus 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 ↗

Ellis-van Creveld syndrome. Case report and literature review.Semantic proximity Read ↗

Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion.Semantic proximity Read ↗

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