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Article

Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects.

BMC medical genetics - 24 Jul 2017

Cristo Fernando, Inácio José M, de Almeida Salomé, Mendes Patrícia, Martins Duarte Saraiva, Maio José, Anjos Rui, Belo José A

Abstract excerpt

BACKGROUND: 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. METHODS: With this in mind, we analyzed a...

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Share to Genetic Association Studies
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Heart Septal Defects, Ventricular

Share to Intercellular Signaling Peptides and Proteins

Share to Nodal Protein

Share to Polymorphism, Single Nucleotide

Share to Signal Transduction

Source

Open in PubMed Open full text

Identifiers

PMID: 28738792
DOI: 10.1186/s12881-017-0444-1
PMCID: PMC5525210

Genes

DAND5

Variants

Provenance

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