Genotype–Phenotype Correlation of EVC Variants in Ellis-Van Creveld Syndrome: A Systematic Review and Case Report

Genotype–Phenotype Correlation of EVC Variants in Ellis-Van Creveld Syndrome: A Systematic Review and Case Report

Ellis-van Creveld syndrome (EvC) is a rare genetic disorder (7:10,000,000) caused by biallelic pathogenic variants in <i>EVC</i> and <i>EVC2</i>, which are located in close proximity on chromosome 4p16.2 in a divergent orientation. These genes encode ciliary complex proteins...

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Bibliographic Details
Main Authors: Sandra Rodriguez-Cambranis, Addy-Manuela Castillo-Espinola, Claudia-Daniela Fuentelzas-Rosado, Paulina Salazar-Sansores, Claudia-Gabriela Nuñez-Solis, Hugo-Antonio Laviada-Molina, Aurea-Karina Zetina-Solorzano, Felix-Julian Campos-Garcia
Format: Article
Language:English
Published: MDPI AG 2025-04-01
Series:Cardiogenetics
Subjects:
Ellis-van Creveld syndrome
EVC
congenital heart disease
Online Access:https://www.mdpi.com/2035-8148/15/2/11
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