Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome

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Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome.pdf (567.55 KB)

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2021

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Article

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Artículos Medicina y Ciencias de la Salud

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https://doi.org/ 10.3390/genes12010092
 http://hdl.handle.net/11447/4310

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Abstract

Congenital heart disease (CHD) and palatal anomalies (PA), are among the most common characteristics of 22q11.2 deletion syndrome (22q11.2DS), but they show incomplete penetrance, suggesting the pres...

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Genes, 2021, vol.12, 92

Keywords

22q11.2 deletion syndrome , mtDNA heteroplasmy , Congenital defects

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