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Article

Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.

American journal of medical genetics. Part A - 1 Aug 2012

Zhian Samaneh, Belmont John, Maslen Cheryl L

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Topics

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Share to Cell Adhesion Molecules
Share to Extracellular Matrix Proteins
Share to Heart Septal Defects, Ventricular
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Syndrome

Source

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Identifiers

PMID: 22740159
DOI: 10.1002/ajmg.a.35457
PMCID: PMC3402694

Genes

CRELD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

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Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.PMID 22740159Read ↗

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

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Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects.Semantic proximity Read ↗

Novel CRELD1 gene mutations in patients with atrioventricular septal defect.Semantic proximity Read ↗

Rare variant mutations identified in pediatric patients with dilated cardiomyopathySemantic proximity Read ↗

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.Semantic proximity Read ↗

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

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