Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome.
Nancy Negrete-TorresMaría Del Carmen Chima-GalánErnesto Antonio Sierra-LópezJanet Sánchez-RamosIsela Álvarez-GonzálezJulia Reyes-RealiMaría Isabel Mendoza-RamosEfraín Garrido-GuerreroDante AmatoClaudia Fabiola Méndez-CataláGlustein Pozo-MolinaAdolfo René Méndez-CruzPublished in: Genes (2023)
causation and diagnosis with implications for genetic counseling and clinical management.