Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans
نویسندگان
چکیده
منابع مشابه
Haploinsufficiency of TAB2 causes congenital heart defects in humans.
Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. We identified a locus for CHDs on 6q24-q25. Genotype-phenotype correlations in 12 patients carrying a chromosomal deletion on 6q delineated a critical 850 kb region on 6q25.1 harboring five genes. Bioinformatics prioriti...
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Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly understood. We performed exome sequencing in 13 parent-offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five...
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BACKGROUND More than 90% of children with congenital heart defects now survive into adulthood; just a few decades ago, survival was rare, particularly among patients with complex defects. The new population of adults with congenital heart disease presents a special challenge to physicians from all of the involved specialties. METHODS Selective literature review. RESULTS AND CONCLUSION A com...
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Background The prevalence of celiac disease (CD) is remarkably varied in Down syndrome(DS)patientscompared with other diseases. This study aimed to assess celiac disease prevalence in Down syndrome children with and without congenital heart defects (CHD) and its comparison with controls. Materials and Methods This case-control study was performed at a single center on 132 participants in three...
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Abstract Background A higher prevalence of congenital heart defects (CHD) in neuroblastoma patients in general population is reported in some publications, however, some authors did not find such an association. The evidence for this relation comes from the observation that, the neural crest cells accompany to the development of the heart and neuroblastoma as well. Materials and Methods We...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2010
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2010.04.011