Article

Contribution of mitochondrial DNA heteroplasmy to the phenotypic variability in maternally transmitted 22q11.2 deletion syndrome

2020-06-02

Abstract excerpt

<h4>ABSTRACT</h4> 22q11.2 deletion syndrome (22q11DS) has an incidence of 1 in 4,000. Most cases occur de novo, but about 10–15% of cases are inherited. Features include congenital heart disease, cleft palate, developmental delay, and other characteristics that can vary even among family members. The presence of nuclear mitochondrial genes in the deleted region, and the requirement of mitochondrial function for pr...

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Literature Corpus work: 9a342551-8590-53e2-b971-5cf7a3b88c61
DOI: 10.1101/2020.05.31.20118646

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