Molecular mechanisms connecting genotype and phenotype in Tbx1 deficiency
ABSTRACT <p>Background: The 22q11 deletion syndrome (22q11DS), also known as DiGeorge Syndrome, affects ~1/5000 live born children. Congenital heart defects (typically outflow tract and interrupted aortic arch) are present in 75% of individuals with 22q11DS and are the major cause of mortalit...
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| Format: | Thesis |
| Language: | English |
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2012
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