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

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 presence of additional factors. The 22q11.2 deleted region contains nuclear encoded mitochondrial genes,...

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Detalles Bibliográficos
Autores principales: Rebolledo-Jaramillo, Boris, Obregon, Maria Gabriela, Huckstadt, Victoria, Gomez, Abel, Repetto, Gabriela M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7828421/
https://www.ncbi.nlm.nih.gov/pubmed/33450921
http://dx.doi.org/10.3390/genes12010092

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7828421/
https://www.ncbi.nlm.nih.gov/pubmed/33450921
http://dx.doi.org/10.3390/genes12010092

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