Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis–van Creveld Syndrome

Background: Ellis–van Creveld syndrome (EvCS) is an autosomal recessive ciliopathy with a disproportionate short stature, polydactyly, dystrophic nails, oral defects, and cardiac anomalies. It is caused by pathogenic variants in the EVC or EVC2 genes. To obtain further insight into the genetics of E...

Descripción completa

Detalles Bibliográficos
Autores principales: Negrete-Torres, Nancy, Chima-Galán, María del Carmen, Sierra-López, Ernesto Antonio, Sánchez-Ramos, Janet, Álvarez-González, Isela, Reyes-Reali, Julia, Mendoza-Ramos, María Isabel, Garrido-Guerrero, Efraín, Amato, Dante, Méndez-Catalá, Claudia Fabiola, Pozo-Molina, Glustein, Méndez-Cruz, Adolfo René
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137610/
https://www.ncbi.nlm.nih.gov/pubmed/37107645
http://dx.doi.org/10.3390/genes14040887

Ejemplares similares

Ejemplares similares