ArticleMolecular genetics & genomic medicine2024
Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion.
Article in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed.
- Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management.Case reports in dentistry · 2025Article
- Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study.Journal of clinical medicine · 2024Article
- Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion.Molecular genetics & genomic medicine · 2024Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
backgroundEllis-van Creveld syndrome (EvCS) is a chondroectodermal dysplasia caused by germline pathogenic variants in ciliary complex subunit 1 and 2 genes (EVC, EVC2) on chromosome 4p16.2. This disease has a broad phenotype, and there are few described phenotype-genotype correlations.
methodsEthical Compliance: Written informed consent was obtained from the parents. Here, we report a genetically confirmed Mexican patient with EvCS having two inherited pathogenic variants in trans in EVC2: c.[1195C>T];[2161delC].
resultsThis patient allowed a genotypic-phenotypic comparison with another Mexican subject who presented a more attenuated phenotype; furthermore, our patient also presented cleft palate, a rarely reported feature.
conclusionOur case shows the importance of comparing functional hemizygosity between patient's phenotypes when they share a variant, and our case also supports the association of alterations in the palate as part of the EvCS phenotype.
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