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...

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Auteurs principaux: Thienpont, Bernard, Zhang, Litu, Postma, Alex V., Breckpot, Jeroen, Tranchevent, Léon-Charles, Van Loo, Peter, Møllgård, Kjeld, Tommerup, Niels, Bache, Iben, Tümer, Zeynep, van Engelen, Klaartje, Menten, Björn, Mortier, Geert, Waggoner, Darrel, Gewillig, Marc, Moreau, Yves, Devriendt, Koen, Larsen, Lars Allan
Format: Artigo
Langue:Inglês
Publié: Elsevier 2010
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3032066/
https://ncbi.nlm.nih.gov/pubmed/20493459
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.04.011
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