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Article

Novel CRELD1 gene mutations in patients with atrioventricular septal defect.

World journal of pediatrics : WJP - 1 Nov 2010

Guo Ying, Shen Jie, Yuan Lang, Li Fen, Wang Jian, Sun Kun

Abstract excerpt

BACKGROUND: Atrioventricular septal defects (AVSDs) occur as clinical defects of several different syndromes, as autosomal dominant defects, and as sporadically occurring malformations. Consequently, there is genetic heterogeneity, but until recently, little is known about the genes involving in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21080147
DOI: 10.1007/s12519-010-0235-7

Genes

CRELD1
EGF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21080147-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Novel CRELD1 gene mutations in patients with atrioventricular septal defect.PMID 21080147Read ↗

Molecular genetics of atrioventricular septal defects.Semantic proximity Read ↗

CRELD1 gene variants and atrioventricular septal defects in Down syndrome.Semantic proximity Read ↗

Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal DefectsSemantic proximity Read ↗

A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India.Semantic proximity Read ↗

Human Genetics of Atrioventricular Septal Defect.Semantic proximity Read ↗

Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect.Semantic proximity Read ↗

Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.Semantic proximity Read ↗

Novel Autosomal Recessive Splice-Altering Variant in PRKD1 Is Associated with Congenital Heart DiseaseSemantic proximity Read ↗

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.Semantic proximity Read ↗

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