TBX2 gene duplication associated with complex heart defect and skeletal malformations
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33506/fullpdf
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3. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities;Ballif;Am J Hum Genet,2010
4. High-resolution SNP arrays in mental retardation diagnostics: How much do we gain?;Bernardini;Eur J Hum Genet,2010
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1. Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia;Frontiers in Genetics;2023-01-17
2. RNA-sequencing of human aortic valves identifies that miR-629-3p and TAGLN miRNA-mRNA pair involving in calcified aortic valve disease;Journal of Physiology and Biochemistry;2022-07-01
3. Association between SNP rs59382073 in TBX2 3′ UTR and susceptibility to congenital heart diseases;Gene Reports;2022-06
4. A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant;Frontiers in Endocrinology;2022-03-03
5. Protein tyrosine phosphatase receptor-ζ1 deletion triggers defective heart morphogenesis in mice and zebrafish;American Journal of Physiology-Heart and Circulatory Physiology;2022-01-01
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