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Article

CRELD1 gene variants and atrioventricular septal defects in Down syndrome.

Gene - 30 Jan 2018

Asim Ambreen, Agarwal Sarita, Panigrahi Inusha, Sarangi Aditya Narayan, Muthuswamy Srinivasan, Kapoor Aditya

Abstract excerpt

Congenital heart defects (CHD) are seen in around 40% of the Down syndrome patients. Atrioventricular Septal Defect (AVSD) or endocardial cushion defect is commonest form of CHD in these children. CRELD1 gene is implicated in causation of sporadic AVSD. In the present study, we evaluated the association and significance of CRELD1 variants with AVSD in Down syndrome (DS) patients. Sequencing was done in blood...

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Source

Identifiers

PMID: 29054759
DOI: 10.1016/j.gene.2017.10.044

Genes

CRELD1
EGF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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