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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 the pathogenesis of AVSD. CRELD1 gene, a novel cell adhesion molecule, is a candidate gene for AVSD. METHODS: This...

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Source

Identifiers

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

Genes

CRELD1
EGF

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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