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Article

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

Molecular genetics & genomic medicine - 1 May 2024

León-Madero Luis Felipe, Fregoso-Ron Cesar Humberto, De León-Carbajal Juan Carlos, Valdés-Miranda Juan Manuel

Abstract excerpt

BACKGROUND: Ellis-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. METHODS: Ethical Compliance: Written informed consent was obtained from the parents. Here, we report a genetically confirmed...

Topics

Humans
Cleft Palate
Ellis-Van Creveld Syndrome
Phenotype
Mexico
Male
Female
Intercellular Signaling Peptides and Proteins

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 38760995
DOI: 10.1002/mgg3.2451
PMCID: PMC11101913

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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