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Article

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

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

Ghosh Priyanka, Bhaumik Pranami, Ghosh Sujoy, Ozbek Umut, Feingold Eleanor, Maslen Cheryl, Sarkar Biswanath, Pramanik Vishmadeb, Biswas Priyanka, Bandyopadhyay Biswajit, Dey Subrata Kumar

Abstract excerpt

To explore the role of CRELD1 variants on congenital heart defects, we sequenced the entire reading frame of CRELD1 in the samples from Kolkata and adjoining areas. Nearly, 400 participants were included in the genetic association study and they were stratified as Down syndrome (DS) with atrioventricular septal defect (AVSD), DS without AVSD, euploid with AVSD, and euploid without AVSD. A significant association...

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Identifiers

PMID: 22987595
DOI: 10.1002/ajmg.a.35626

Genes

CRELD1

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