Login / Signup

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-Cruz
Published in: Genes (2023)
causation and diagnosis with implications for genetic counseling and clinical management.
Keyphrases
  • copy number
  • genome wide
  • early onset
  • dna methylation
  • smoking cessation
  • case report
  • bioinformatics analysis
  • hiv testing
  • gene expression
  • genome wide analysis
  • antiretroviral therapy