Functional Study of DAND5 Variant in Patients with Congenital Heart Disease and Laterality Defects

Cristo, F; Inácio, JM; Almeida, S; Mendes, P; Martins, DS; Maio, J; Anjos, R; Belo, JA

http://hdl.handle.net/10400.17/2895

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Abstract(s)

Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs is linked with variants of genes involved in the Nodal signaling pathway.

Keywords

Female Genetic Association Studies Genetic Predisposition to Disease Genotype Heart Defects, Congenital Heart Septal Defects, Ventricular Humans Intercellular Signaling Peptides and Proteins Male Mutation Nodal Protein Phenotype Polymorphism, Single Nucleotide Signal Transduction HDE GEN